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NM_000257.4(MYH7):c.3324C>T (p.Leu1108=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 4, 2016
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:
RCV000439485.1

Allele description [Variation Report for NM_000257.4(MYH7):c.3324C>T (p.Leu1108=)]

NM_000257.4(MYH7):c.3324C>T (p.Leu1108=)

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.3324C>T (p.Leu1108=)
HGVS:
  • NC_000014.9:g.23420970G>A
  • NG_007884.1:g.19692C>T
  • NM_000257.4:c.3324C>TMANE SELECT
  • NP_000248.2:p.Leu1108=
  • LRG_384t1:c.3324C>T
  • LRG_384:g.19692C>T
  • NC_000014.8:g.23890179G>A
  • NM_000257.2:c.3324C>T
  • NM_000257.3:c.3324C>T
Links:
dbSNP: rs933857323
NCBI 1000 Genomes Browser:
rs933857323
Molecular consequence:
  • NM_000257.4:c.3324C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000515532GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Nov 4, 2016) 		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, SCV000515532.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Nov 3, 2024