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NM_001365715.1(LRCH3):c.2078A>G (p.Asn693Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 14, 2024
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:
RCV004637479.1

Allele description [Variation Report for NM_001365715.1(LRCH3):c.2078A>G (p.Asn693Ser)]

NM_001365715.1(LRCH3):c.2078A>G (p.Asn693Ser)

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.2078A>G (p.Asn693Ser)
HGVS:
  • NC_000003.12:g.197871410A>G
  • NM_001363887.1:c.2078A>G
  • NM_001365715.1:c.2078A>GMANE SELECT
  • NM_001365716.1:c.1970A>G
  • NM_001365717.1:c.2006A>G
  • NM_001365718.1:c.1970A>G
  • NM_032773.4:c.2078A>G
  • NP_001350816.1:p.Asn693Ser
  • NP_001352644.1:p.Asn693Ser
  • NP_001352645.1:p.Asn657Ser
  • NP_001352646.1:p.Asn669Ser
  • NP_001352647.1:p.Asn657Ser
  • NP_116162.1:p.Asn693Ser
  • NC_000003.11:g.197598281A>G
  • NM_032773.2:c.2078A>G
  • NR_158582.1:n.1995A>G
Protein change:
N657S
Molecular consequence:
  • NM_001363887.1:c.2078A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365715.1:c.2078A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365716.1:c.1970A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365717.1:c.2006A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365718.1:c.1970A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032773.4:c.2078A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_158582.1:n.1995A>G - 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
SCV005136796Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 14, 2024) 		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, SCV005136796.1

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

Description

The c.2078A>G (p.N693S) alteration is located in exon 19 (coding exon 19) of the LRCH3 gene. This alteration results from a A to G substitution at nucleotide position 2078, causing the asparagine (N) at amino acid position 693 to be replaced by a serine (S). 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: Aug 11, 2024