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NM_138715.3(MSR1):c.760C>G (p.Leu254Val) AND Barrett esophagus/esophageal adenocarcinoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 27, 2011
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:
RCV000022646.26

Allele description [Variation Report for NM_138715.3(MSR1):c.760C>G (p.Leu254Val)]

NM_138715.3(MSR1):c.760C>G (p.Leu254Val)

Gene:
MSR1:macrophage scavenger receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p22
Genomic location:
Preferred name:
NM_138715.3(MSR1):c.760C>G (p.Leu254Val)
HGVS:
  • NC_000008.11:g.16164122G>C
  • NG_012102.1:g.33670C>G
  • NM_001363744.1:c.814C>G
  • NM_002445.4:c.760C>G
  • NM_138715.3:c.760C>GMANE SELECT
  • NM_138716.3:c.760C>G
  • NP_001350673.1:p.Leu272Val
  • NP_002436.1:p.Leu254Val
  • NP_619729.1:p.Leu254Val
  • NP_619730.1:p.Leu254Val
  • NC_000008.10:g.16021631G>C
  • P21757:p.Leu254Val
Protein change:
L254V; LEU254VAL
Links:
UniProtKB: P21757#VAR_066585; OMIM: 153622.0003; dbSNP: rs387906645
NCBI 1000 Genomes Browser:
rs387906645
Molecular consequence:
  • NM_001363744.1:c.814C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002445.4:c.760C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138715.3:c.760C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138716.3:c.760C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Barrett esophagus/esophageal adenocarcinoma
Identifiers:
MedGen: C3277074

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000043935OMIM
no assertion criteria provided
Pathogenic
(Jul 27, 2011) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma.

Orloff M, Peterson C, He X, Ganapathi S, Heald B, Yang YR, Bebek G, Romigh T, Song JH, Wu W, David S, Cheng Y, Meltzer SJ, Eng C.

JAMA. 2011 Jul 27;306(4):410-9. doi: 10.1001/jama.2011.1029.

PubMed [citation]
PMID:
21791690
PMCID:
PMC3574553

Details of each submission

From OMIM, SCV000043935.2

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

Description

Orloff et al. (2011) identified a germline 760C-G transversion in exon 5 of the MSR1 gene, resulting in a leu254-to-val (L254V) substitution in 2 (1.7%) of 116 patients of European descent with Barrett esophagus and/or esophageal adenocarcinoma (614266). The mutation was not found in 139 controls. This genomic region was studied after being identified by genomewide linkage analysis of 21 concordant sibs pairs with the disorders and 11 discordant sib pairs.

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

Last Updated: Apr 23, 2022