NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) AND Pheochromocytoma

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 25, 2020
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:: RCV001294091.9

Allele description [Variation Report for NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)]

NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)

Gene:

SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.1

Genomic location:

Preferred name:

NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)

HGVS:

NC_000011.10:g.112094810T>G
NG_012337.3:g.12964T>G
NM_001276503.2:c.175T>G
NM_001276504.2:c.203T>G
NM_001276506.2:c.*18T>G
NM_003002.4:c.320T>GMANE SELECT
NP_001263432.1:p.Leu59Val
NP_001263433.1:p.Leu68Arg
NP_002993.1:p.Leu107Arg
LRG_9t1:c.320T>G
LRG_9:g.12964T>G
LRG_9p1:p.Leu107Arg
NC_000011.9:g.111965534T>G
NM_003002.2:c.320T>G
NM_003002.3:c.320T>G
NR_077060.2:n.409T>G

Protein change:

L107R

Links:

dbSNP: rs876658477

NCBI 1000 Genomes Browser:

rs876658477

Molecular consequence:

NM_001276506.2:c.*18T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276503.2:c.175T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276504.2:c.203T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003002.4:c.320T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_077060.2:n.409T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Pheochromocytoma
Synonyms:: Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666

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
SCV001482897	Baylor Genetics - CSER-TexasKidsCanSeq	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 25, 2020)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 28977582, 32035780, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001482897

Baylor Genetics - CSER-TexasKidsCanSeq

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 25, 2020)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Cardiac paraganglioma with a novel germline mutation of succinate dehydrogenase gene D.

Otani N, Sugano K, Inami S, Amano H, Arikawa T, Saito S, Imai K, Ushiama M, Yoshida T, Kimura N, Toyoda S, Inoue T.

Jpn J Clin Oncol. 2017 Dec 1;47(12):1193-1197. doi: 10.1093/jjco/hyx132.

PubMed [citation]

PMID:: 28977582

Tumor-specific prognosis of mutation-positive patients with head and neck paragangliomas.

Sen I, Young WF Jr, Kasperbauer JL, Polonis K, Harmsen WS, Colglazier JJ, DeMartino RR, Oderich GS, Kalra M, Bower TC.

J Vasc Surg. 2020 May;71(5):1602-1612.e2. doi: 10.1016/j.jvs.2019.08.232. Epub 2020 Feb 5.

PubMed [citation]

PMID:: 32035780

See all PubMed Citations (3)

Details of each submission

From Baylor Genetics - CSER-TexasKidsCanSeq, SCV001482897.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been reported in multiple patients [PMID: 28977582, 32035780; ClinVar: 230274]

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

Last Updated: Oct 26, 2024

ClinVar

Relating variation to medicine