Variant: NM_194248.3(OTOF):c.4091G>T (p.Gly1364Val)

CA1563284

667141 (ClinVar)

Gene: OTOF

Condition: nonsyndromic genetic deafness

Inheritance Mode: Autosomal recessive inheritance

UUID: ba09d29c-18d6-4873-8a0f-85a8dddff4ae

HGVS expressions

NM_194248.3:c.4091G>T
NM_194248.3(OTOF):c.4091G>T (p.Gly1364Val)
NC_000002.12:g.26467501C>A
CM000664.2:g.26467501C>A
NC_000002.11:g.26690369C>A
CM000664.1:g.26690369C>A
NC_000002.10:g.26543873C>A
NG_009937.1:g.96198G>T
ENST00000272371.7:c.4091G>T
ENST00000339598.8:c.1790G>T
ENST00000402415.8:c.1850G>T
ENST00000272371.6:c.4091G>T
ENST00000338581.10:c.1790G>T
ENST00000339598.7:c.1790G>T
ENST00000402415.7:c.2021G>T
ENST00000403946.7:c.4091G>T
NM_001287489.1:c.4091G>T
NM_004802.3:c.1790G>T
NM_194248.2:c.4091G>T
NM_194322.2:c.2021G>T
NM_194323.2:c.1790G>T
NM_001287489.2:c.4091G>T
NM_004802.4:c.1790G>T
NM_194322.3:c.2021G>T
NM_194323.3:c.1790G>T

Likely Benign

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

• Met criteria codes: BS1

• Not Met criteria codes: PP3 BA1 BP4

Expert Panel

Hearing Loss VCEP

Criteria Specification Information

Evidence submitted by expert panel

Hearing Loss VCEP

The filtering allele frequency (the lower threshold of the 95% CI of 128/24484) of the c.4091G>T (p.Gly1364Val) variant in the OTOF gene is 0.449% 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).

Met criteria codes

• BS1: Present in 0.52% (128/24484) of African/African-American alleles in gnomAD v2.1.1 but the filtering AF (95 CI) is 0.449%.

Not Met criteria codes

• PP3: REVEL score is 0.478.
• BA1: Present in 0.52% (128/24484) of African/African-American alleles in gnomAD v2.1.1 but the filtering AF (95 CI) is 0.449%.
• BP4: REVEL score is 0.478.

Approved on: 2022-05-13

Published on: 2022-05-13