NM_018972.4(GDAP1):c.825del (p.Leu276fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 1, 2021
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:: RCV001531082.20

Allele description [Variation Report for NM_018972.4(GDAP1):c.825del (p.Leu276fs)]

NM_018972.4(GDAP1):c.825del (p.Leu276fs)

Gene:

GDAP1:ganglioside induced differentiation associated protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8q21.11

Genomic location:

Preferred name:

NM_018972.4(GDAP1):c.825del (p.Leu276fs)

HGVS:

NC_000008.11:g.74364115del
NG_008787.3:g.47986del
NM_001040875.4:c.621del
NM_001362929.2:c.498del
NM_001362930.2:c.651del
NM_001362931.2:c.694+1062del
NM_001362932.2:c.498del
NM_018972.4:c.825delMANE SELECT
NP_001035808.1:p.Leu208fs
NP_001349858.1:p.Leu167fs
NP_001349859.1:p.Leu218fs
NP_001349861.1:p.Leu167fs
NP_061845.2:p.Leu276fs
LRG_244:g.47986del
NC_000008.10:g.75276350del

Protein change:

L167fs

Links:

dbSNP: rs2131521760

NCBI 1000 Genomes Browser:

rs2131521760

Molecular consequence:

NM_001040875.4:c.621del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362929.2:c.498del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362930.2:c.651del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362932.2:c.498del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018972.4:c.825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362931.2:c.694+1062del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

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
SCV001746042	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (May 1, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001746042

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely pathogenic
(May 1, 2021)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001746042.20

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

#	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		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine