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NM_024830.5(LPCAT1):c.341G>A (p.Arg114Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 11, 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:
RCV004076987.1

Allele description [Variation Report for NM_024830.5(LPCAT1):c.341G>A (p.Arg114Gln)]

NM_024830.5(LPCAT1):c.341G>A (p.Arg114Gln)

Genes:
LOC126807286:BRD4-independent group 4 enhancer GRCh37_chr5:1494052-1495251 [Gene]
LPCAT1:lysophosphatidylcholine acyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
NM_024830.5(LPCAT1):c.341G>A (p.Arg114Gln)
HGVS:
  • NC_000005.10:g.1494852C>T
  • NG_051622.1:g.34126G>A
  • NG_083607.1:g.1016C>T
  • NM_024830.5:c.341G>AMANE SELECT
  • NP_079106.3:p.Arg114Gln
  • NC_000005.9:g.1494967C>T
  • NM_024830.3:c.341G>A
Protein change:
R114Q
Molecular consequence:
  • NM_024830.5:c.341G>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
SCV003527684Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 11, 2022) 		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, SCV003527684.2

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

Description

The c.341G>A (p.R114Q) alteration is located in exon 3 (coding exon 3) of the LPCAT1 gene. This alteration results from a G to A substitution at nucleotide position 341, causing the arginine (R) at amino acid position 114 to be replaced by a glutamine (Q). 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: Nov 10, 2024