Evidence Repository - Clinical Genome Resources

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

Variant: NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA142894

48238 (ClinVar)

Gene: OTOF

Condition: nonsyndromic genetic deafness

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 6a881023-2757-489b-8156-5057a9bfb710

Approved on: 2021-07-27

Published on: 2022-05-13

HGVS expressions

NM_194248.3:c.4582G>A

NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn)

NC_000002.12:g.26465995C>T

CM000664.2:g.26465995C>T

NC_000002.11:g.26688863C>T

CM000664.1:g.26688863C>T

NC_000002.10:g.26542367C>T

NG_009937.1:g.97704G>A

ENST00000272371.7:c.4582G>A

ENST00000339598.8:c.2281G>A

ENST00000402415.8:c.2341G>A

ENST00000272371.6:c.4582G>A

ENST00000338581.10:c.2281G>A

ENST00000339598.7:c.2281G>A

ENST00000402415.7:c.2512G>A

ENST00000403946.7:c.4582G>A

ENST00000464574.1:n.331G>A

NM_001287489.1:c.4582G>A

NM_004802.3:c.2281G>A

NM_194248.2:c.4582G>A

NM_194322.2:c.2512G>A

NM_194323.2:c.2281G>A

NM_001287489.2:c.4582G>A

NM_004802.4:c.2281G>A

NM_194322.3:c.2512G>A

NM_194323.3:c.2281G>A

Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"

BS1

Evidence Links 0

Expert Panel

Hearing Loss VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Hearing Loss VCEP

The filtering allele frequency (the lower threshold of the 95% CI of 119/24962) of the c.4582G>A (p.Asp1528Asn) variant in the OTOF gene is 0.407% for African/African-American chromosomes by gnomAD, which is a high enough frequency to be classified as likely benign based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BS1).

BS1

Present in 0.0047 (119/24962) African/African-American alleles in gnomAD v2.1.1, filtering AF is 0.00407, still higher than 0.003.

Curation History

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