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NM_000228.3(LAMB3):c.55C>A (p.Gln19Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 4, 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:
RCV002729722.2

Allele description [Variation Report for NM_000228.3(LAMB3):c.55C>A (p.Gln19Lys)]

NM_000228.3(LAMB3):c.55C>A (p.Gln19Lys)

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.55C>A (p.Gln19Lys)
HGVS:
  • NC_000001.11:g.209650092G>T
  • NG_007116.1:g.7384C>A
  • NM_000228.3:c.55C>AMANE SELECT
  • NM_001017402.2:c.55C>A
  • NM_001127641.1:c.55C>A
  • NP_000219.2:p.Gln19Lys
  • NP_001017402.1:p.Gln19Lys
  • NP_001121113.1:p.Gln19Lys
  • NC_000001.10:g.209823437G>T
  • NM_000228.2:c.55C>A
Protein change:
Q19K
Molecular consequence:
  • NM_000228.3:c.55C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001017402.2:c.55C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127641.1:c.55C>A - 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
SCV003730263Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 4, 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, SCV003730263.2

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

Description

The c.55C>A (p.Q19K) alteration is located in exon 3 (coding exon 2) of the LAMB3 gene. This alteration results from a C to A substitution at nucleotide position 55, causing the glutamine (Q) at amino acid position 19 to be replaced by a lysine (K). 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