NM_004006.3(DMD):c.3478_3479del (p.Val1160fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 3, 2018
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:: RCV001008100.1

Allele description [Variation Report for NM_004006.3(DMD):c.3478_3479del (p.Val1160fs)]

NM_004006.3(DMD):c.3478_3479del (p.Val1160fs)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_004006.3(DMD):c.3478_3479del (p.Val1160fs)

HGVS:

NC_000023.11:g.32454787_32454788del
NG_012232.1:g.889823_889824del
NM_000109.4:c.3454_3455del
NM_004006.3:c.3478_3479delMANE SELECT
NM_004009.3:c.3466_3467del
NM_004010.3:c.3109_3110del
NP_000100.3:p.Val1152fs
NP_003997.2:p.Val1160fs
NP_004000.1:p.Val1156fs
NP_004001.1:p.Val1037fs
LRG_199t1:c.3478_3479del
LRG_199:g.889823_889824del
NC_000023.10:g.32472904_32472905del
NM_004006.2:c.3478_3479delGT

Protein change:

V1037fs

Links:

dbSNP: rs1603633867

NCBI 1000 Genomes Browser:

rs1603633867

Molecular consequence:

NM_000109.4:c.3454_3455del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004006.3:c.3478_3479del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004009.3:c.3466_3467del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004010.3:c.3109_3110del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001167847	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Oct 3, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001167847

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Oct 3, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001167847.1

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

Description

The c.3478_3479delGT variant has been reported previously in association with Duchenne musculardystrophy (Hofstra et al., 2004; Deburgrave et al., 2007). The c.3478_3479delGT variant causes aframeshift starting with codon Valine 1160, changes this amino acid to a Lysine residue, and creates apremature Stop codon at position 17 of the new reading frame, denoted p.Val1160LysfsX17. Thisvariant is predicted to cause loss of normal protein function either through protein truncation ornonsense-mediated mRNA decay. Furthermore, the c.3478_3479delGT variant is not observed in largepopulation cohorts (Lek et al., 2016).

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

Last Updated: Apr 23, 2022

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