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NM_000187.4(HGD):c.94C>T (p.Pro32Ser) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 1, 2023
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:
RCV000584944.21

Allele description

NM_000187.4(HGD):c.94C>T (p.Pro32Ser)

Gene:
HGD:homogentisate 1,2-dioxygenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q13.33
Genomic location:
Preferred name:
NM_000187.4(HGD):c.94C>T (p.Pro32Ser)
HGVS:
  • NC_000003.12:g.120674983G>A
  • NG_011957.1:g.12499C>T
  • NM_000187.4:c.94C>TMANE SELECT
  • NP_000178.2:p.Pro32Ser
  • NC_000003.11:g.120393830G>A
Protein change:
P32S
Links:
dbSNP: rs1553721599
NCBI 1000 Genomes Browser:
rs1553721599
Molecular consequence:
  • NM_000187.4:c.94C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000693115CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely pathogenic
(Nov 1, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000693115.28

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided

Description

HGD: PM2, PP4:Moderate, PM3:Supporting, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Aug 4, 2024