Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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  • See Evidence submitted by expert panel for details.

Variant: NM_000260.3(MYO7A):c.324C>T (p.Tyr108=)

CA132282

43201 (ClinVar)

Gene: MYO7A
Condition: nonsyndromic genetic deafness
Link to MONDO
UUID: 8f1b935c-2f47-463c-987b-93081430a581
Approved on: 2018-09-28
Published on: 2019-07-17

HGVS expressions

NM_000260.3:c.324C>T
NM_000260.3(MYO7A):c.324C>T (p.Tyr108=)
NC_000011.10:g.77155945C>T
CM000673.2:g.77155945C>T
NC_000011.9:g.76866991C>T
CM000673.1:g.76866991C>T
NC_000011.8:g.76544639C>T
NG_009086.1:g.32682C>T
NM_001127179.2:c.324C>T
NM_001127180.1:c.324C>T
NM_000260.4:c.324C>T
ENST00000409619.6:c.291C>T
ENST00000409709.7:c.324C>T
ENST00000409893.5:c.324C>T
ENST00000458637.6:c.324C>T
ENST00000620575.4:c.324C>T

Benign

Met criteria codes 1
BA1
Not Met criteria codes 21
PP4 PP1 PP3 BS2 BS4 BS1 PVS1 BP5 BP2 BP3 BP4 PM6 PM2 PM3 PM1 PM4 PM5 PS2 PS4 PS3 PS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Hearing Loss VCEP
The filtering allele frequency of the p.Tyr108= variant in the MYO7A gene is 1.45% (300/18658) of East Asian chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org; calculated by using inverse allele frequency at https://www.cardiodb.org/allelefrequencyapp/), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal dominant hearing loss variants (BA1).
Met criteria codes
BA1
ExAC filtered allele frequency 1.76% from East Asian population
Not Met criteria codes
PP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
ExAC filtered allele frequency 1.76% from East Asian population
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM2
ExAC filtered allele frequency 1.76% from East Asian population
PM3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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