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NM_001142556.2(HMMR):c.1928T>C (p.Val643Ala) AND Breast cancer, susceptibility to

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 23, 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:
RCV002244281.2

Allele description [Variation Report for NM_001142556.2(HMMR):c.1928T>C (p.Val643Ala)]

NM_001142556.2(HMMR):c.1928T>C (p.Val643Ala)

Genes:
HMMR-AS1:HMMR antisense RNA 1 [Gene - HGNC]
HMMR:hyaluronan mediated motility receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q34
Genomic location:
Preferred name:
NM_001142556.2(HMMR):c.1928T>C (p.Val643Ala)
HGVS:
  • NC_000005.10:g.163484211T>C
  • NG_023309.1:g.28701T>C
  • NM_001142556.2:c.1928T>CMANE SELECT
  • NM_001142557.2:c.1667T>C
  • NM_012484.3:c.1925T>C
  • NM_012485.3:c.1880T>C
  • NP_001136028.1:p.Val643Ala
  • NP_001136029.1:p.Val556Ala
  • NP_036616.2:p.Val642Ala
  • NP_036617.2:p.Val627Ala
  • NC_000005.9:g.162911217T>C
Protein change:
V556A
Links:
dbSNP: rs199569126
NCBI 1000 Genomes Browser:
rs199569126
Molecular consequence:
  • NM_001142556.2:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142557.2:c.1667T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012484.3:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012485.3:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Breast cancer, susceptibility to
Identifiers:
MedGen: C3469522

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002512728Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 23, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512728.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: BP4 supporting

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

Last Updated: Jun 9, 2024