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NM_000257.4(MYH7):c.1304T>A (p.Met435Lys) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 1, 2023
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:
RCV003334050.11

Allele description [Variation Report for NM_000257.4(MYH7):c.1304T>A (p.Met435Lys)]

NM_000257.4(MYH7):c.1304T>A (p.Met435Lys)

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.1304T>A (p.Met435Lys)
HGVS:
  • NC_000014.9:g.23429058A>T
  • NG_007884.1:g.11604T>A
  • NM_000257.4:c.1304T>AMANE SELECT
  • NP_000248.2:p.Met435Lys
  • LRG_384:g.11604T>A
  • NC_000014.8:g.23898267A>T
Protein change:
M435K
Links:
dbSNP: rs1484300349
NCBI 1000 Genomes Browser:
rs1484300349
Molecular consequence:
  • NM_000257.4:c.1304T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004042579CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely pathogenic
(Dec 1, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004042579.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided

Description

MYH7: PM1, PM2, PM5:Supporting, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

Last Updated: Oct 20, 2024