NM_004006.3(DMD):c.7348G>C (p.Val2450Leu) AND Duchenne muscular dystrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 27, 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:: RCV001987210.4

Allele description [Variation Report for NM_004006.3(DMD):c.7348G>C (p.Val2450Leu)]

NM_004006.3(DMD):c.7348G>C (p.Val2450Leu)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_004006.3(DMD):c.7348G>C (p.Val2450Leu)

HGVS:

NC_000023.11:g.31774154C>G
NG_012232.1:g.1570456G>C
NM_000109.4:c.7324G>C
NM_004006.3:c.7348G>CMANE SELECT
NM_004009.3:c.7336G>C
NM_004010.3:c.6979G>C
NM_004011.4:c.3325G>C
NM_004012.4:c.3316G>C
NM_004013.3:c.-33G>C
NM_004020.4:c.-33G>C
NM_004021.3:c.-33G>C
NM_004022.3:c.-33G>C
NM_004023.3:c.-33G>C
NP_000100.3:p.Val2442Leu
NP_003997.2:p.Val2450Leu
NP_004000.1:p.Val2446Leu
NP_004001.1:p.Val2327Leu
NP_004002.3:p.Val1109Leu
NP_004003.2:p.Val1106Leu
LRG_199:g.1570456G>C
NC_000023.10:g.31792271C>G

Protein change:

V1106L

Links:

dbSNP: rs1348131883

NCBI 1000 Genomes Browser:

rs1348131883

Molecular consequence:

NM_004013.3:c.-33G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_004020.4:c.-33G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_004021.3:c.-33G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_004022.3:c.-33G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_004023.3:c.-33G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000109.4:c.7324G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004006.3:c.7348G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004009.3:c.7336G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004010.3:c.6979G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004011.4:c.3325G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004012.4:c.3316G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Duchenne muscular dystrophy (DMD)
Synonyms:: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Identifiers:: MONDO: MONDO:0010679; MedGen: C0013264; Orphanet: 98896; OMIM: 310200

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Transmembrane protein 79 [Mus musculus]
Transmembrane protein 79 [Mus musculus]
gi|13097048|gb|AAH03309.1|

Protein
PREDICTED: ABC transporter B family member 19 [Cucumis melo]
PREDICTED: ABC transporter B family member 19 [Cucumis melo]
gi|659118790|ref|XP_008459308.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002207702	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 27, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002207702

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 27, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002207702.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with DMD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2450 of the DMD protein (p.Val2450Leu).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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