NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 15, 2023
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:: RCV003164229.2

Allele description [Variation Report for NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu)]

NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu)

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.3914C>T (p.Pro1305Leu)

HGVS:

NC_000001.11:g.216198482G>A
NG_009497.2:g.229967C>T
NM_007123.6:c.3914C>T
NM_206933.2:c.3914C>T
NM_206933.4:c.3914C>TMANE SELECT
NP_009054.6:p.Pro1305Leu
NP_996816.3:p.Pro1305Leu
NC_000001.10:g.216371824G>A
NG_009497.1:g.229915C>T
NM_206933.4:c.3914C>T

Protein change:

P1305L

Links:

dbSNP: rs780574336

NCBI 1000 Genomes Browser:

rs780574336

Molecular consequence:

NM_007123.6:c.3914C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_206933.4:c.3914C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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protein FAM76B [Danio rerio]
protein FAM76B [Danio rerio]
gi|41152468|ref|NP_956226.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003905134	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 15, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003905134

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 15, 2023)

germline

clinical testing

Citation Link

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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, SCV003905134.2

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

Description

The c.3914C>T (p.P1305L) alteration is located in exon 18 (coding exon 17) of the USH2A gene. This alteration results from a C to T substitution at nucleotide position 3914, causing the proline (P) at amino acid position 1305 to be replaced by a leucine (L). 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: Sep 29, 2024

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