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NM_000245.4(MET):c.2971C>T (p.Pro991Ser) AND Osteofibrous dysplasia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 25, 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:
RCV001788226.1

Allele description [Variation Report for NM_000245.4(MET):c.2971C>T (p.Pro991Ser)]

NM_000245.4(MET):c.2971C>T (p.Pro991Ser)

Gene:
MET:MET proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000245.4(MET):c.2971C>T (p.Pro991Ser)
HGVS:
  • NC_000007.14:g.116771932C>T
  • NG_008996.1:g.104528C>T
  • NM_000245.4:c.2971C>TMANE SELECT
  • NM_001127500.3:c.3025C>T
  • NM_001324402.2:c.1681C>T
  • NP_000236.2:p.Pro991Ser
  • NP_001120972.1:p.Pro1009Ser
  • NP_001311331.1:p.Pro561Ser
  • LRG_662t1:c.3025C>T
  • LRG_662:g.104528C>T
  • NC_000007.13:g.116411986C>T
  • NM_001127500.1:c.3025C>T
  • NM_001127500.2:c.3025C>T
Protein change:
P1009S
Links:
dbSNP: rs768678989
NCBI 1000 Genomes Browser:
rs768678989
Molecular consequence:
  • NM_000245.4:c.2971C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127500.3:c.3025C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324402.2:c.1681C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Osteofibrous dysplasia (OSFD)
Synonyms:
Tibia, bowing of, with pseudarthrosis and pectus excavatum
Identifiers:
MONDO: MONDO:0011806; MedGen: C4085248; OMIM: 607278

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002030092Baylor Genetics - CSER-TexasKidsCanSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 25, 2021) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot 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 Baylor Genetics - CSER-TexasKidsCanSeq, SCV002030092.1

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Sep 29, 2024