NM_004006.3(DMD):c.7390_7391delinsAT (p.Ser2464Ile) AND Duchenne muscular dystrophy

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 1, 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:: RCV003072963.1

Allele description

NM_004006.3(DMD):c.7390_7391delinsAT (p.Ser2464Ile)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_004006.3(DMD):c.7390_7391delinsAT (p.Ser2464Ile)

HGVS:

NC_000023.11:g.31774111_31774112delinsAT
NG_012232.1:g.1570498_1570499delinsAT
NM_000109.4:c.7366_7367delinsAT
NM_004006.2:c.7390_7391delinsAT
NM_004006.3:c.7390_7391delinsATMANE SELECT
NM_004009.3:c.7378_7379delinsAT
NM_004010.3:c.7021_7022delinsAT
NM_004011.4:c.3367_3368delinsAT
NM_004012.4:c.3358_3359delinsAT
NM_004013.3:c.10_11delinsAT
NM_004020.4:c.10_11delinsAT
NM_004021.3:c.10_11delinsAT
NM_004022.3:c.10_11delinsAT
NM_004023.3:c.10_11delinsAT
NP_000100.3:p.Ser2456Ile
NP_003997.1:p.Ser2464Ile
NP_003997.2:p.Ser2464Ile
NP_004000.1:p.Ser2460Ile
NP_004001.1:p.Ser2341Ile
NP_004002.3:p.Ser1123Ile
NP_004003.2:p.Ser1120Ile
NP_004004.2:p.Ser4Ile
NP_004011.3:p.Ser4Ile
NP_004012.2:p.Ser4Ile
NP_004013.2:p.Ser4Ile
NP_004014.2:p.Ser4Ile
LRG_199t1:c.7390_7391delinsAT
LRG_199:g.1570498_1570499delinsAT
NC_000023.10:g.31792228_31792229delinsAT
NM_004006.2:c.7390_7391delTCinsAT

Protein change:

S1120I

Molecular consequence:

NM_000109.4:c.7366_7367delinsAT - missense variant - [Sequence Ontology: SO:0001583]
NM_004006.3:c.7390_7391delinsAT - missense variant - [Sequence Ontology: SO:0001583]
NM_004009.3:c.7378_7379delinsAT - missense variant - [Sequence Ontology: SO:0001583]
NM_004010.3:c.7021_7022delinsAT - missense variant - [Sequence Ontology: SO:0001583]
NM_004011.4:c.3367_3368delinsAT - missense variant - [Sequence Ontology: SO:0001583]
NM_004012.4:c.3358_3359delinsAT - missense variant - [Sequence Ontology: SO:0001583]
NM_004013.3:c.10_11delinsAT - missense variant - [Sequence Ontology: SO:0001583]
NM_004020.4:c.10_11delinsAT - missense variant - [Sequence Ontology: SO:0001583]
NM_004021.3:c.10_11delinsAT - missense variant - [Sequence Ontology: SO:0001583]
NM_004022.3:c.10_11delinsAT - missense variant - [Sequence Ontology: SO:0001583]
NM_004023.3:c.10_11delinsAT - 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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AU021315 Mouse eight-cell stage embryo cDNA Mus musculus cDNA clone J0545H02 3', mRNA sequence
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003473284	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 1, 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

SCV003473284

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 1, 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 Invitae, SCV003473284.1

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

Description

This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 2464 of the DMD protein (p.Ser2464Ile). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with DMD-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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.

#	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: Mar 16, 2024

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