NM_031475.3(ESPN):c.1646C>T (p.Ala549Val) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 20, 2021
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:: RCV002539598.2

Allele description [Variation Report for NM_031475.3(ESPN):c.1646C>T (p.Ala549Val)]

NM_031475.3(ESPN):c.1646C>T (p.Ala549Val)

Gene:

ESPN:espin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.31

Genomic location:

Preferred name:

NM_031475.3(ESPN):c.1646C>T (p.Ala549Val)

HGVS:

NC_000001.11:g.6448822C>T
NG_015866.1:g.29035C>T
NM_001367473.1:c.1626+20C>T
NM_001367474.1:c.1626+20C>T
NM_031475.3:c.1646C>TMANE SELECT
NP_113663.2:p.Ala549Val
LRG_1281t1:c.1646C>T
LRG_1281:g.29035C>T
LRG_1281p1:p.Ala549Val
NC_000001.10:g.6508882C>T
NM_031475.2:c.1646C>T

Protein change:

A549V

Links:

dbSNP: rs984812540

NCBI 1000 Genomes Browser:

rs984812540

Molecular consequence:

NM_001367473.1:c.1626+20C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001367474.1:c.1626+20C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_031475.3:c.1646C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003541207	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 20, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003541207

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 20, 2021)

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, SCV003541207.2

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

Description

The c.1646C>T (p.A549V) alteration is located in exon 8 (coding exon 8) of the ESPN gene. This alteration results from a C to T substitution at nucleotide position 1646, causing the alanine (A) at amino acid position 549 to be replaced by a valine (V). 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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