NM_004006.3(DMD):c.7390_7391delinsAT (p.Ser2464Ile) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 13, 2023
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:: RCV003491233.2

Allele description [Variation Report for NM_004006.3(DMD):c.7390_7391delinsAT (p.Ser2464Ile)]

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Chain B, Galectin-1
Chain B, Galectin-1
gi|1565770452|pdb|6F83|B

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004234353	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 13, 2023)	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

SCV004234353

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 13, 2023)

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV004234353.1

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

#	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: Nov 10, 2024

ClinVar

Relating variation to medicine