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NM_001128831.4(CA1):c.760G>C (p.Gly254Arg) AND Carbonic anhydrase I, Guam

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1981
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000019171.23

Allele description [Variation Report for NM_001128831.4(CA1):c.760G>C (p.Gly254Arg)]

NM_001128831.4(CA1):c.760G>C (p.Gly254Arg)

Gene:
CA1:carbonic anhydrase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.2
Genomic location:
Preferred name:
NM_001128831.4(CA1):c.760G>C (p.Gly254Arg)
Other names:
G253R
HGVS:
  • NC_000008.11:g.85328586C>G
  • NG_016221.1:g.54528G>C
  • NM_001128829.4:c.760G>C
  • NM_001128830.4:c.760G>C
  • NM_001128831.4:c.760G>CMANE SELECT
  • NM_001164830.2:c.760G>C
  • NM_001291967.2:c.562G>C
  • NM_001291968.2:c.421G>C
  • NM_001738.5:c.760G>C
  • NP_001122301.1:p.Gly254Arg
  • NP_001122302.1:p.Gly254Arg
  • NP_001122303.1:p.Gly254Arg
  • NP_001158302.1:p.Gly254Arg
  • NP_001278896.1:p.Gly188Arg
  • NP_001278897.1:p.Gly141Arg
  • NP_001729.1:p.Gly254Arg
  • NC_000008.10:g.86240815C>G
  • P00915:p.Gly254Arg
Protein change:
G141R; GLY253ARG
Links:
UniProtKB: P00915#VAR_001379; OMIM: 114800.0001; dbSNP: rs121909577
NCBI 1000 Genomes Browser:
rs121909577
Molecular consequence:
  • NM_001128829.4:c.760G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128830.4:c.760G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128831.4:c.760G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164830.2:c.760G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291967.2:c.562G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291968.2:c.421G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001738.5:c.760G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Carbonic anhydrase I, Guam
Identifiers:
MedGen: C4015931

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039459OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1981) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Biochemical genetics of carbonic anhydrase.

Tashian RE, Carter ND.

Adv Hum Genet. 1976;7:1-56. Review. No abstract available.

PubMed [citation]
PMID:
827930

Population genetic studies of the Philippine Negritos. III. Identification of the carbonic anhydrase-1 variant with CA1 Guam.

Omoto K, Ueda S, Goriki K, Takahashi N, Misawa S, Pagaran IG.

Am J Hum Genet. 1981 Jan;33(1):105-11.

PubMed [citation]
PMID:
6781336
PMCID:
PMC1684865

Details of each submission

From OMIM, SCV000039459.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Carbonic anhydrase Guam has substitution of arginine for glycine (Tashian and Carter, 1976). Omoto et al. (1981) established identity of a CA-1 variant in Philippine Negritos, CA-1(3N), to CA-1(Guam); both have substitution of arginine for glycine at amino acid 253.

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

Last Updated: Apr 23, 2022