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NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 26, 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:
RCV000242327.11

Allele description [Variation Report for NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)]

NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)
Other names:
p.N1672K:AAT>AAA; NM_000109.3(DMD):c.4992T>A(p.Asn1664Lys); NM_004006.2(DMD):c.5016T>A(p.Asn1672Lys); NM_004009.3(DMD):c.5004T>A(p.Asn1668Lys); NM_004010.3(DMD):c.4647T>A(p.Asn1549Lys); NM_004011.3(DMD):c.993T>A(p.Asn331Lys); NM_004012.3(DMD):c.984T>A(p.Asn328Lys)
HGVS:
  • NC_000023.11:g.32365029A>T
  • NG_012232.1:g.979581T>A
  • NM_000109.4:c.4992T>A
  • NM_004006.3:c.5016T>AMANE SELECT
  • NM_004009.3:c.5004T>A
  • NM_004010.3:c.4647T>A
  • NM_004011.4:c.993T>A
  • NM_004012.4:c.984T>A
  • NP_000100.3:p.Asn1664Lys
  • NP_003997.1:p.Asn1672Lys
  • NP_003997.1:p.Asn1672Lys
  • NP_003997.2:p.Asn1672Lys
  • NP_004000.1:p.Asn1668Lys
  • NP_004001.1:p.Asn1549Lys
  • NP_004002.3:p.Asn331Lys
  • NP_004003.2:p.Asn328Lys
  • LRG_199t1:c.5016T>A
  • LRG_199:g.979581T>A
  • LRG_199p1:p.Asn1672Lys
  • NC_000023.10:g.32383146A>T
  • NM_004006.2:c.5016T>A
  • NM_004019.2:c.-1098200T>A
Protein change:
N1549K
Links:
dbSNP: rs16990264
NCBI 1000 Genomes Browser:
rs16990264
Molecular consequence:
  • NM_000109.4:c.4992T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004006.3:c.5016T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004009.3:c.5004T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004010.3:c.4647T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004011.4:c.993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004012.4:c.984T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000318385Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Mar 26, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000318385.7

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

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 30, 2024