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NM_000228.3(LAMB3):c.3016C>T (p.Arg1006Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 31, 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:
RCV003243057.2

Allele description [Variation Report for NM_000228.3(LAMB3):c.3016C>T (p.Arg1006Cys)]

NM_000228.3(LAMB3):c.3016C>T (p.Arg1006Cys)

Gene:
LAMB3:laminin subunit beta 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_000228.3(LAMB3):c.3016C>T (p.Arg1006Cys)
HGVS:
  • NC_000001.11:g.209617942G>A
  • NG_007116.1:g.39534C>T
  • NM_000228.3:c.3016C>TMANE SELECT
  • NM_001017402.2:c.3016C>T
  • NM_001127641.1:c.3016C>T
  • NP_000219.2:p.Arg1006Cys
  • NP_001017402.1:p.Arg1006Cys
  • NP_001121113.1:p.Arg1006Cys
  • NC_000001.10:g.209791287G>A
  • NM_000228.2:c.3016C>T
Protein change:
R1006C
Links:
dbSNP: rs376701936
NCBI 1000 Genomes Browser:
rs376701936
Molecular consequence:
  • NM_000228.3:c.3016C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001017402.2:c.3016C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127641.1:c.3016C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003939738Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 31, 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, SCV003939738.2

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

Description

The c.3016C>T (p.R1006C) alteration is located in exon 20 (coding exon 19) of the LAMB3 gene. This alteration results from a C to T substitution at nucleotide position 3016, causing the arginine (R) at amino acid position 1006 to be replaced by a cysteine (C). 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 1, 2024