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NM_002470.4(MYH3):c.2952T>C (p.Ser984=) AND Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 5, 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:
RCV001778721.3

Allele description [Variation Report for NM_002470.4(MYH3):c.2952T>C (p.Ser984=)]

NM_002470.4(MYH3):c.2952T>C (p.Ser984=)

Gene:
MYH3:myosin heavy chain 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_002470.4(MYH3):c.2952T>C (p.Ser984=)
HGVS:
  • NC_000017.11:g.10639448A>G
  • NG_011537.1:g.22851T>C
  • NM_002470.4:c.2952T>CMANE SELECT
  • NP_002461.2:p.Ser984=
  • NC_000017.10:g.10542765A>G
  • NM_002470.2:c.2952T>C
  • NM_002470.3:c.2952T>C
Links:
dbSNP: rs2285474
NCBI 1000 Genomes Browser:
rs2285474
Molecular consequence:
  • NM_002470.4:c.2952T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (CPSFS1A)
Synonyms:
MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT; Distal arthrogryposis type 8; Contractures, pterygia, and variable skeletal fusions syndrome 1A
Identifiers:
MONDO: MONDO:0008338; MedGen: C1867440; Orphanet: 65743; OMIM: 178110

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002015841Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Sep 5, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002015841.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024