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NM_001365715.1(LRCH3):c.1147G>A (p.Ala383Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 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:
RCV004324339.1

Allele description [Variation Report for NM_001365715.1(LRCH3):c.1147G>A (p.Ala383Thr)]

NM_001365715.1(LRCH3):c.1147G>A (p.Ala383Thr)

Gene:
LRCH3:leucine rich repeats and calponin homology domain containing 3 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_001365715.1(LRCH3):c.1147G>A (p.Ala383Thr)
HGVS:
  • NC_000003.12:g.197835718G>A
  • NM_001363887.1:c.1147G>A
  • NM_001365715.1:c.1147G>AMANE SELECT
  • NM_001365716.1:c.1147G>A
  • NM_001365717.1:c.1147G>A
  • NM_001365718.1:c.1147G>A
  • NM_001365719.2:c.1147G>A
  • NM_032773.4:c.1147G>A
  • NP_001350816.1:p.Ala383Thr
  • NP_001352644.1:p.Ala383Thr
  • NP_001352645.1:p.Ala383Thr
  • NP_001352646.1:p.Ala383Thr
  • NP_001352647.1:p.Ala383Thr
  • NP_001352648.1:p.Ala383Thr
  • NP_116162.1:p.Ala383Thr
  • NC_000003.11:g.197562589G>A
  • NM_032773.2:c.1147G>A
  • NR_158582.1:n.1172G>A
Protein change:
A383T
Molecular consequence:
  • NM_001363887.1:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365715.1:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365716.1:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365717.1:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365718.1:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365719.2:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032773.4:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_158582.1:n.1172G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003984865Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 3, 2023) 		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, SCV003984865.2

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

Description

The c.1147G>A (p.A383T) alteration is located in exon 9 (coding exon 9) of the LRCH3 gene. This alteration results from a G to A substitution at nucleotide position 1147, causing the alanine (A) at amino acid position 383 to be replaced by a threonine (T). 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: Oct 26, 2024