NM_206933.4(USH2A):c.3973A>G (p.Thr1325Ala) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 11, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002841538.2

Allele description [Variation Report for NM_206933.4(USH2A):c.3973A>G (p.Thr1325Ala)]

NM_206933.4(USH2A):c.3973A>G (p.Thr1325Ala)

Genes:

USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.3973A>G (p.Thr1325Ala)

HGVS:

NC_000001.11:g.216198423T>C
NG_009497.2:g.230026A>G
NM_007123.6:c.3973A>G
NM_206933.4:c.3973A>GMANE SELECT
NP_009054.6:p.Thr1325Ala
NP_996816.3:p.Thr1325Ala
NC_000001.10:g.216371765T>C
NM_206933.2:c.3973A>G

Protein change:

T1325A

Molecular consequence:

NM_007123.6:c.3973A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_206933.4:c.3973A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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LysE family translocator [Pusillimonas sp. T7-7]
LysE family translocator [Pusillimonas sp. T7-7]
gi|503509498|ref|WP_013744112.1|

Protein
Mus musculus mRNA for KAP3A, complete cds
Mus musculus mRNA for KAP3A, complete cds
gi|1526418|dbj|D50366.1|

Nucleotide
Homo sapiens androgen induced 1 (AIG1), transcript variant 23, mRNA
Homo sapiens androgen induced 1 (AIG1), transcript variant 23, mRNA
gi|1484505963|ref|NM_001366362.1|

Nucleotide
Kaya-Barakat-Masson syndrome
Kaya-Barakat-Masson syndrome

MedGen
C5436856[conceptid] (1)
MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003625311	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 11, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003625311

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 11, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003625311.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.3973A>G (p.T1325A) alteration is located in exon 18 (coding exon 17) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 3973, causing the threonine (T) at amino acid position 1325 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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