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NM_145314.3(UCMA):c.359G>A (p.Arg120His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 23, 2021
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:
RCV004477287.1

Allele description [Variation Report for NM_145314.3(UCMA):c.359G>A (p.Arg120His)]

NM_145314.3(UCMA):c.359G>A (p.Arg120His)

Gene:
UCMA:upper zone of growth plate and cartilage matrix associated [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_145314.3(UCMA):c.359G>A (p.Arg120His)
HGVS:
  • NC_000010.11:g.13222161C>T
  • NM_001303118.2:c.263G>A
  • NM_001303119.2:c.197G>A
  • NM_145314.3:c.359G>AMANE SELECT
  • NP_001290047.1:p.Arg88His
  • NP_001290048.1:p.Arg66His
  • NP_660357.2:p.Arg120His
  • NC_000010.10:g.13264161C>T
  • NM_145314.1:c.359G>A
Protein change:
R120H
Molecular consequence:
  • NM_001303118.2:c.263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303119.2:c.197G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145314.3:c.359G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004973126Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 23, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004973126.1

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

Description

The c.359G>A (p.R120H) alteration is located in exon 5 (coding exon 5) of the UCMA gene. This alteration results from a G to A substitution at nucleotide position 359, causing the arginine (R) at amino acid position 120 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024