NM_004006.3(DMD):c.1888A>G (p.Thr630Ala) AND not specified

Clinical significance:Benign (Last evaluated: Nov 23, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000183383.7

Allele description [Variation Report for NM_004006.3(DMD):c.1888A>G (p.Thr630Ala)]

NM_004006.3(DMD):c.1888A>G (p.Thr630Ala)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala)
Other names:
p.T630A:ACA>GCA
HGVS:
  • NC_000023.11:g.32565806T>C
  • NG_012232.1:g.778804A>G
  • NM_000109.4:c.1864A>G
  • NM_004006.2:c.1888A>G
  • NM_004006.3:c.1888A>GMANE SELECT
  • NM_004009.3:c.1876A>G
  • NM_004010.3:c.1519A>G
  • NP_000100.3:p.Thr622Ala
  • NP_003997.1:p.Thr630Ala
  • NP_003997.2:p.Thr630Ala
  • NP_004000.1:p.Thr626Ala
  • NP_004001.1:p.Thr507Ala
  • LRG_199t1:c.1888A>G
  • LRG_199:g.778804A>G
  • LRG_199p1:p.Thr630Ala
  • NC_000023.10:g.32583923T>C
Protein change:
T507A
Links:
dbSNP: rs72468692
NCBI 1000 Genomes Browser:
rs72468692
Molecular consequence:
  • NM_000109.4:c.1864A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004006.2:c.1888A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004006.3:c.1888A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004009.3:c.1876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004010.3:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000337584EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Nov 21, 2015)
germlineclinical testing

Citation Link,

SCV001448552Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Benign
(Nov 23, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000337584.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001448552.1

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

Description

Variant summary: DMD c.1888A>G (p.Thr630Ala) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0016 in 183238 control chromosomes. The observed variant frequency is approximately 144 fold of the estimated maximal expected allele frequency for a pathogenic variant in DMD causing Dystrophinopathies phenotype (1.1e-05), strongly suggesting that the variant is benign. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.

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

Last Updated: Nov 27, 2021

Support Center