GenVue Discovery

Variant Report

Curation

Rare mutations

Below are rare variants (frequency less than 1%) that were submitted to ClinVar. The data presented has no guarantees of reporting accuracy. Heterozygous variants are reported as yellow and homozygous variants as red. A red or yellow variant does not necessarily mean one has or carries a condition or disease. This is for research and educational purposes only.

Gene: GJB2
Variant: c.71G>A
(p.Trp24Ter)
rsID: rs104894396
Ref Allele: C
Alt Allele: T
Freq: 0.0399%rare
CADD: 42

ClinVar Submissions (17)

Expert Reviewed Clinically Significant Pathogenic

Hetero

CT

Gene: WFS1
Variant: c.577A>C
(p.Lys193Gln)
rsID: rs41264699
Ref Allele: A
Alt Allele: C
Freq: 0.2196%rare
CADD: 23.6

ClinVar Submissions (6)

Benign/Likely benign

Hetero

AC

Gene: MYO3A
Variant: c.3133G>A
(p.Val1045Met)
rsID: rs35447806
Ref Allele: G
Alt Allele: A
Freq: 0.2995%rare
CADD: 27.7

ClinVar Submissions (1)

Benign

Hetero

AG

Gene: FOLR1
Variant: c.493+2T>C
rsID: rs144637717
Ref Allele: T
Alt Allele: C
Freq: 0.3395%rare
CADD: 25.2

ClinVar Submissions (8)

Clinically Significant Conflicting/Uncertain

Hetero

CT

Gene: BRCA2
Variant: c.9976A>T
(p.Lys3326Ter)
rsID: rs11571833
Ref Allele: A
Alt Allele: T
Freq: 0.4393%rare
CADD: 36

ClinVar Submissions (34)

Expert Reviewed Clinically Significant Benign

Hetero

AT

Gene: BRCA2
Variant: c.9257-276G>A
rsID: rs11571815
Ref Allele: G
Alt Allele: A
Freq: 0.4593%rare
CADD: 2.73

ClinVar Submissions (1)

Expert Reviewed Benign

Hetero

AG

Gene: ERCC1
Variant: c.225G>A
(p.Thr75=)
rsID: rs3212947
Ref Allele: C
Alt Allele: T
Freq: 0.4992%rare
CADD: 0.853

ClinVar Submissions (1)

Conflicting/Uncertain

Hetero

CT

Gene: FREM2
Variant: c.4319C>A
(p.Thr1440Lys)
rsID: rs79048205
Ref Allele: C
Alt Allele: A
Freq: 0.5192%rare
CADD: 27.8

ClinVar Submissions (1)

Conflicting/Uncertain

Hetero

AC

Gene: FKBP10
Variant: c.917+53G>T
rsID: rs141387386
Ref Allele: G
Alt Allele: T
Freq: 0.5391%rare
CADD: 1.28

ClinVar Submissions (1)

Clinically Significant Likely pathogenic

Hetero

GT

Gene: HYDIN
Variant: c.14857C>T
(p.Arg4953Trp)
rsID: rs79607350
Ref Allele: G
Alt Allele: A
Freq: 0.5591%rare
CADD: 34

ClinVar Submissions (1)

Likely benign

Hetero

AG

Gene: CHMP2B
Variant: c.-151C>A
rsID: rs77328592
Ref Allele: C
Alt Allele: A
Freq: 0.5791%rare
CADD: 8.651

ClinVar Submissions (1)

Likely benign

Hetero

AC

Gene: SPINK1
Variant: c.101A>G
(p.Asn34Ser)
rsID: rs17107315
Ref Allele: T
Alt Allele: C
Freq: 0.639%rare
CADD: 0.165

ClinVar Submissions (8)

Expert Reviewed Clinically Significant Conflicting/Uncertain

Hetero

CT

Gene: CUBN
Variant: c.8741C>T
(p.Ala2914Val)
rsID: rs45551835
Ref Allele: G
Alt Allele: A
Freq: 0.639%rare
CADD: 28.3

ClinVar Submissions (2)

Benign/Likely benign

Hetero

AG

Gene: MED25
Variant: c.1483-7C>T
rsID: rs2017698
Ref Allele: C
Alt Allele: T
Freq: 0.6789%rare
CADD: 4.859

ClinVar Submissions (2)

Benign

Hetero

CT

Gene: TTN
Variant: c.35784G>A
(p.Arg11928=)
rsID: rs56034831
Ref Allele: C
Alt Allele: T
Freq: 0.6989%rare
CADD: 1.444

ClinVar Submissions (7)

Benign/Likely benign

Hetero

CT

Gene: DSG4
Variant: c.1568C>T
(p.Pro523Leu)
rsID: rs34620697
Ref Allele: C
Alt Allele: T
Freq: 0.7987%rare
CADD: 25.2

ClinVar Submissions (2)

Conflicting/Uncertain

Hetero

CT

Gene: CNGB1
Variant: c.105G>A
(p.Ala35=)
rsID: rs61997250
Ref Allele: C
Alt Allele: T
Freq: 0.8187%rare
CADD: 0.124

ClinVar Submissions (1)

Conflicting/Uncertain

Hetero

CT

Gene: PTGER4
Variant: c.880G>A
(p.Val294Ile)
rsID: rs111866313
Ref Allele: G
Alt Allele: A
Freq: 0.8387%rare
CADD: 8.654

ClinVar Submissions (1)

Benign

Hetero

AG

Gene: RAB3GAP1
Variant: c.913A>G
(p.Ile305Val)
rsID: rs116775947
Ref Allele: A
Alt Allele: G
Freq: 0.8986%rare
CADD: 9.478

ClinVar Submissions (2)

Benign

Hetero

AG

Gene: MUTYH
Variant: c.157+30A>G
rsID: rs3219485
Ref Allele: T
Alt Allele: C
Freq: 0.9385%rare
CADD: 2.838

ClinVar Submissions (2)

Benign

Hetero

CT

Gene: POMT1
Variant: c.1758G>A
(p.Arg586=)
rsID: rs34954751
Ref Allele: G
Alt Allele: A
Freq: 0.9984%rare
CADD: 14.97

ClinVar Submissions (6)

Benign

Hetero

AG