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NM_004006.3(DMD):c.10872T>C (p.Ser3624=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 18, 2022
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:
RCV002427545.2

Allele description [Variation Report for NM_004006.3(DMD):c.10872T>C (p.Ser3624=)]

NM_004006.3(DMD):c.10872T>C (p.Ser3624=)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.2
Genomic location:
Preferred name:
NM_004006.3(DMD):c.10872T>C (p.Ser3624=)
HGVS:
  • NC_000023.11:g.31146340A>G
  • NG_012232.1:g.2198270T>C
  • NM_000109.4:c.10848T>C
  • NM_004006.3:c.10872T>CMANE SELECT
  • NM_004009.3:c.10860T>C
  • NM_004010.3:c.10503T>C
  • NM_004011.4:c.6849T>C
  • NM_004012.4:c.6840T>C
  • NM_004013.3:c.3492T>C
  • NM_004014.3:c.2685T>C
  • NM_004015.3:c.1668T>C
  • NM_004016.3:c.1668T>C
  • NM_004017.3:c.1629T>C
  • NM_004018.3:c.1629T>C
  • NM_004020.4:c.3162T>C
  • NM_004021.3:c.3492T>C
  • NM_004022.3:c.3453T>C
  • NM_004023.3:c.3162T>C
  • NP_000100.3:p.Ser3616=
  • NP_003997.2:p.Ser3624=
  • NP_004000.1:p.Ser3620=
  • NP_004001.1:p.Ser3501=
  • NP_004002.3:p.Ser2283=
  • NP_004003.2:p.Ser2280=
  • NP_004004.2:p.Ser1164=
  • NP_004005.2:p.Ser895=
  • NP_004006.1:p.Ser556=
  • NP_004007.1:p.Ser556=
  • NP_004008.1:p.Ser543=
  • NP_004009.1:p.Ser543=
  • NP_004011.3:p.Ser1054=
  • NP_004012.2:p.Ser1164=
  • NP_004013.2:p.Ser1151=
  • NP_004014.2:p.Ser1054=
  • LRG_199t1:c.10872T>C
  • LRG_199:g.2198270T>C
  • NC_000023.10:g.31164457A>G
  • NM_004006.2:c.10872T>C
Links:
dbSNP: rs2147921726
NCBI 1000 Genomes Browser:
rs2147921726
Molecular consequence:
  • NM_000109.4:c.10848T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004006.3:c.10872T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004009.3:c.10860T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004010.3:c.10503T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004011.4:c.6849T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004012.4:c.6840T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004013.3:c.3492T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004014.3:c.2685T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004015.3:c.1668T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004016.3:c.1668T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004017.3:c.1629T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004018.3:c.1629T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004020.4:c.3162T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004021.3:c.3492T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004022.3:c.3453T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004023.3:c.3162T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002730873Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 18, 2022) 		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, SCV002730873.2

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

Description

This alteration is classified as likely 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 10, 2024