NM_004168.4(SDHA):c.757_758del (p.Val253fs) AND Paragangliomas 5

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 28, 2016
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:: RCV000576361.2

Allele description [Variation Report for NM_004168.4(SDHA):c.757_758del (p.Val253fs)]

NM_004168.4(SDHA):c.757_758del (p.Val253fs)

Gene:

SDHA:succinate dehydrogenase complex flavoprotein subunit A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5p15.33

Genomic location:

Preferred name:

NM_004168.4(SDHA):c.757_758del (p.Val253fs)

HGVS:

NC_000005.10:g.228320_228321del
NC_000005.9:g.228434_228435del
NG_012339.1:g.15080_15081del
NM_001294332.2:c.613_614del
NM_001330758.2:c.757_758del
NM_004168.4:c.757_758delMANE SELECT
NP_001281261.1:p.Val205fs
NP_001317687.1:p.Val253fs
NP_004159.2:p.Val253fs
LRG_315t1:c.757_758del
LRG_315:g.15080_15081del
LRG_315p1:p.Val253fs
NC_000005.9:g.228434_228435del
NC_000005.9:g.228435_228436del
NC_000005.9:g.228435_228436delGT

Protein change:

V205fs

Links:

Counsyl: 1144243; dbSNP: rs1553998254

NCBI 1000 Genomes Browser:

rs1553998254

Molecular consequence:

NM_001294332.2:c.613_614del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330758.2:c.757_758del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004168.4:c.757_758del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Paragangliomas 5 (PPGL5)
Synonyms:: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5
Identifiers:: MONDO: MONDO:0013602; MedGen: C3279992; Orphanet: 29072; OMIM: 614165

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000677850	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely pathogenic (Nov 28, 2016)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000677850

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Likely pathogenic
(Nov 28, 2016)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000677850.2

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

Last Updated: Sep 29, 2024

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