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NM_000257.4(MYH7):c.3812A>G (p.Asn1271Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 31, 2013
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:
RCV000158621.2

Allele description [Variation Report for NM_000257.4(MYH7):c.3812A>G (p.Asn1271Ser)]

NM_000257.4(MYH7):c.3812A>G (p.Asn1271Ser)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.3812A>G (p.Asn1271Ser)
Other names:
p.N1271S:AAC>AGC
HGVS:
  • NC_000014.9:g.23419524T>C
  • NG_007884.1:g.21138A>G
  • NM_000257.4:c.3812A>GMANE SELECT
  • NP_000248.2:p.Asn1271Ser
  • LRG_384t1:c.3812A>G
  • LRG_384:g.21138A>G
  • NC_000014.8:g.23888733T>C
  • NM_000257.2:c.3812A>G
Protein change:
N1271S
Links:
dbSNP: rs730880783
NCBI 1000 Genomes Browser:
rs730880783
Molecular consequence:
  • NM_000257.4:c.3812A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208556GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 31, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208556.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Asn1271Ser (AAC>AGC): c.3812 A>G in exon 28 of the MYH7 gene (NM_000257.2). The Asn1271Ser variant in the MYH7 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The Asn1271Ser variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Mutations in nearby residues (Ala1263Glu, Arg1277Gln) have been reported in association with HCM, supporting the functional importance of this region of the protein. The Asn1271Ser residue is conserved across species. However, the Asn1271Ser variant is a conservative amino acid substitution as these residues share similar properties, and are least likely to impact secondary structure. Furthermore, in silico analysis predicts Asn1271Ser is benign to the protein structure/function. With the clinical and molecular information available at this time, we cannot definitively determine if Asn1271Ser is a disease-causing mutation or a rare benign variant. The variant is found in HCM panel(s).

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

Last Updated: Nov 5, 2022