NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 22, 2015
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:: RCV000150656.5

Allele description [Variation Report for NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser)]

NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser)

Gene:

ESPN:espin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.31

Genomic location:

Preferred name:

NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser)

HGVS:

NC_000001.11:g.6444538C>T
NG_015866.1:g.24751C>T
NM_001367473.1:c.1048C>T
NM_001367474.1:c.1048C>T
NM_031475.3:c.1048C>TMANE SELECT
NP_001354402.1:p.Pro350Ser
NP_001354403.1:p.Pro350Ser
NP_113663.2:p.Pro350Ser
LRG_1281t1:c.1048C>T
LRG_1281:g.24751C>T
LRG_1281p1:p.Pro350Ser
NC_000001.10:g.6504598C>T
NM_031475.2:c.1048C>T

Protein change:

P350S

Links:

dbSNP: rs115143295

NCBI 1000 Genomes Browser:

rs115143295

Molecular consequence:

NM_001367473.1:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001367474.1:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_031475.3:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000198002	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Oct 22, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000198002

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Oct 22, 2015)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	2	2	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000198002.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

Description

p.Pro350Ser in exon 6 of ESPN: This variant is not expected to have clinical sig nificance because it has been identified in 0.31% (32/10394) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs115143295).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		2	not provided	2	not provided

Last Updated: Feb 20, 2024

ClinVar

Relating variation to medicine