U.S. flag

An official website of the United States government

NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) AND Cowden syndrome 7

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 11, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000210063.1

Allele description

NM_006363.6(SEC23B):c.490G>T (p.Val164Leu)

Gene:
SEC23B:SEC23 homolog B, COPII coat complex component [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p11.23
Genomic location:
Preferred name:
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu)
Other names:
SEC23B, VAL164LEU (rs36023150)
HGVS:
  • NC_000020.11:g.18524556G>T
  • NG_016281.2:g.22075G>T
  • NM_001172745.3:c.490G>T
  • NM_001172746.3:c.436G>T
  • NM_006363.6:c.490G>TMANE SELECT
  • NM_032985.6:c.490G>T
  • NM_032986.5:c.490G>T
  • NP_001166216.1:p.Val164Leu
  • NP_001166217.1:p.Val146Leu
  • NP_006354.2:p.Val164Leu
  • NP_116780.1:p.Val164Leu
  • NP_116781.1:p.Val164Leu
  • LRG_1134t1:c.490G>T
  • LRG_1134:g.22075G>T
  • LRG_1134p1:p.Val164Leu
  • NC_000020.10:g.18505200G>T
  • NM_006363.4:c.490G>T
  • NM_032985.4:c.490G>T
  • Q15437:p.Val164Leu
Protein change:
V146L; VAL164LEU
Links:
UniProtKB: Q15437#VAR_076424; OMIM: 610512.0008; dbSNP: rs36023150
NCBI 1000 Genomes Browser:
rs36023150
Molecular consequence:
  • NM_001172745.3:c.490G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172746.3:c.436G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006363.6:c.490G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032985.6:c.490G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032986.5:c.490G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cowden syndrome 7 (CWS7)
Identifiers:
MONDO: MONDO:0014802; MedGen: C4225179; Orphanet: 201; OMIM: 616858

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000265993OMIM
no assertion criteria provided
Uncertain significance
(Jul 11, 2018) 		germlineliterature only

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

Hamosh, A. Personal Communication. 2018. Baltimore, Md.

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.

Yehia L, Niazi F, Ni Y, Ngeow J, Sankunny M, Liu Z, Wei W, Mester JL, Keri RA, Zhang B, Eng C.

Am J Hum Genet. 2015 Nov 5;97(5):661-76. doi: 10.1016/j.ajhg.2015.10.001. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26522472
PMCID:
PMC4667132

Details of each submission

From OMIM, SCV000265993.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

This variant, formerly titled COWDEN SYNDROME 7, has been reclassified based on a review of the ExAC database by Hamosh (2018).

In 2 unrelated women (probands CCF02565 and CCF05664) with a Cowden-like syndrome (see 616858), Yehia et al. (2015) identified heterozygosity for a c.490G-T transversion in the SEC23B gene, resulting in a val164-to-leu (V164L; rs36023150) substitution at a highly conserved residue within the SEC23 trunk domain that forms the interface between SEC23 and SEC34 and also contacts SAR1 (see 607690). The T allele was present in 97 of 12,909 alleles in the NHLBI ESP6500 database (minor allele frequency = 0.0075). One of the affected women was diagnosed with follicular variant papillary thyroid cancer at age 52 years and also exhibited macrocephaly; the other woman was diagnosed with papillary thyroid cancer at age 45, and also had fibrocystic breast disease, atypical ductal hyperplasia, and ductal carcinoma in situ, as well as hemangioma and macrocephaly.

Hamosh (2018) found that the V164L variant was present in heterozygous state in 1,432 of 121,406 alleles and in 18 homozygotes, giving an allele frequency of 0.0118, in the ExAC database (July 11, 2018).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 18, 2022