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NM_000257.4(MYH7):c.4826_4828delinsGCCGCAACC (p.Asn1609_Glu1610delinsSerArgAsnGln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 25, 2017
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:
RCV000523739.1

Allele description [Variation Report for NM_000257.4(MYH7):c.4826_4828delinsGCCGCAACC (p.Asn1609_Glu1610delinsSerArgAsnGln)]

NM_000257.4(MYH7):c.4826_4828delinsGCCGCAACC (p.Asn1609_Glu1610delinsSerArgAsnGln)

Genes:
LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [Gene]
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.4826_4828delinsGCCGCAACC (p.Asn1609_Glu1610delinsSerArgAsnGln)
HGVS:
  • NC_000014.9:g.23416129_23416131delinsGGTTGCGGC
  • NG_007884.1:g.24531_24533delinsGCCGCAACC
  • NM_000257.4:c.4826_4828delinsGCCGCAACCMANE SELECT
  • NP_000248.2:p.Asn1609_Glu1610delinsSerArgAsnGln
  • LRG_384t1:c.4826_4828delACGinsGCCGCAACC
  • LRG_384:g.24531_24533delinsGCCGCAACC
  • NC_000014.8:g.23885338_23885340delinsGGTTGCGGC
  • NM_000257.2:c.4826_4828delACGinsGCCGCAACC
  • NR_126491.1:n.390_392delinsGGTTGCGGC
Links:
dbSNP: rs1555336439
NCBI 1000 Genomes Browser:
rs1555336439
Molecular consequence:
  • NM_000257.4:c.4826_4828delinsGCCGCAACC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NR_126491.1:n.390_392delinsGGTTGCGGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000622012GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 25, 2017) 		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, SCV000622012.1

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

Description

The c.4826_4828delACGinsGCCGCAACC variant in the MYH7 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.4826_4828delACGinsGCCGCAACC variant is not observed in large population cohorts (Lek et al., 2016). The c.4826_4828delACGinsGCCGCAACC variant replaces Asparagine 1609 and Glutamic acid 1610 with 4 incorrect amino acids, denoted p.Asn1609_Glu1610delinsSerArgAsnGln. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function

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

Last Updated: Mar 26, 2023