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NM_000190.4(HMBS):c.739T>C (p.Cys247Arg) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 27, 2022
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:
RCV002298429.2

Allele description [Variation Report for NM_000190.4(HMBS):c.739T>C (p.Cys247Arg)]

NM_000190.4(HMBS):c.739T>C (p.Cys247Arg)

Gene:
HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg)
HGVS:
  • NC_000011.10:g.119092491T>C
  • NG_008093.1:g.12615T>C
  • NM_000190.4:c.739T>CMANE SELECT
  • NM_001024382.2:c.688T>C
  • NM_001258208.2:c.652-267T>C
  • NM_001258209.2:c.601-267T>C
  • NP_000181.2:p.Cys247Arg
  • NP_001019553.1:p.Cys230Arg
  • LRG_1076t1:c.739T>C
  • LRG_1076t2:c.688T>C
  • LRG_1076:g.12615T>C
  • LRG_1076p1:p.Cys247Arg
  • LRG_1076p2:p.Cys230Arg
  • NC_000011.9:g.118963201T>C
  • NM_000190.3:c.739T>C
  • P08397:p.Cys247Arg
Protein change:
C230R; CYS247ARG
Links:
UniProtKB: P08397#VAR_003664; OMIM: 609806.0029; dbSNP: rs118204111
NCBI 1000 Genomes Browser:
rs118204111
Molecular consequence:
  • NM_001258208.2:c.652-267T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258209.2:c.601-267T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000190.4:c.739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001024382.2:c.688T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002588423GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Apr 27, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002588423.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Published functional studies demonstrate a damaging effect due to reduced protein activity (Pischik E et al., 2005; Lenglet H et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 16211556, 10453740, 29360981, 8262523)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024