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]
  • See Evidence submitted by expert panel for details.

Variant: NM_206933.2(USH2A):c.14419G>A (p.Ala4807Thr)

CA246980

198366 (ClinVar)

Gene: USH2A
Condition: Usher syndrome
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: c1d605e5-67f2-43d5-8643-a70536da96b7
Approved on: 2018-09-28
Published on: 2019-07-17

HGVS expressions

NM_206933.2:c.14419G>A
NM_206933.2(USH2A):c.14419G>A (p.Ala4807Thr)
NC_000001.11:g.215648691C>T
CM000663.2:g.215648691C>T
NC_000001.10:g.215822033C>T
CM000663.1:g.215822033C>T
NC_000001.9:g.213888656C>T
NG_009497.1:g.779706G>A
NG_009497.2:g.779758G>A
ENST00000307340.8:c.14419G>A
ENST00000674083.1:c.14419G>A
ENST00000307340.7:c.14419G>A
NM_206933.3:c.14419G>A
NM_206933.4:c.14419G>A
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Uncertain Significance

Met criteria codes 1
PM2_Supporting
Not Met criteria codes 25
PS1 PS2 PS3 PS4 BA1 PP1 PP2 PP3 PP4 PM1 PM3 PM5 PM4 PM6 PVS1 BS2 BS1 BS4 BS3 BP4 BP3 BP1 BP2 BP5 BP7

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Hearing Loss VCEP
The c.14419G>A (p.Ala4807Thr) variant in USH2A has been observed in at least one individual with hearing loss (Partners LMM ClinVar SCV000272892.2; PS4 not met). The variant has been observed in 0.01% (5/30782) of South Asian chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org), which is a low enough frequency to award PM2_Supporting based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss (PM2_Supporting). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PM2_Supporting.
Met criteria codes
PM2_Supporting
ExAC MAF of 0.03% in South Asian. 0.016% in gnomAD. http://gnomad.broadinstitute.org/variant/1-215822033-C-T
Not Met criteria codes
PS1
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
PS3
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
BA1
ExAC MAF of 0.03% in South Asian. 0.016% in gnomAD. http://gnomad.broadinstitute.org/variant/1-215822033-C-T
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP2
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
PP4
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
PM3
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
PM4
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
PVS1
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
BS1
ExAC MAF of 0.03% in South Asian. 0.016% in gnomAD. http://gnomad.broadinstitute.org/variant/1-215822033-C-T
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
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
BP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP1
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
BP5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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