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NM_000228.3(LAMB3):c.1439C>T (p.Pro480Leu)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 5, 2020
Accession:
VCV000295108.6
Variation ID:
295108
Description:
single nucleotide variant
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NM_000228.3(LAMB3):c.1439C>T (p.Pro480Leu)

Allele ID
280116
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.2
Genomic location
1: 209627429 (GRCh38) GRCh38 UCSC
1: 209800774 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.209800774G>A
NC_000001.11:g.209627429G>A
NM_000228.3:c.1439C>T MANE Select NP_000219.2:p.Pro480Leu missense
... more HGVS
Protein change
P480L
Other names
-
Canonical SPDI
NC_000001.11:209627428:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00399 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00131
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00361
1000 Genomes Project 0.00399
Exome Aggregation Consortium (ExAC) 0.00148
The Genome Aggregation Database (gnomAD) 0.00303
Trans-Omics for Precision Medicine (TOPMed) 0.00324
Links
ClinGen: CA1375601
dbSNP: rs61734494
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000276955.2
Benign 1 criteria provided, single submitter Dec 5, 2020 RCV000955278.3
Likely benign 1 criteria provided, single submitter Jul 17, 2020 RCV001251314.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LAMB3 - - GRCh38
GRCh37
572 595

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Junctional epidermolysis bullosa
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000353633.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Jul 17, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001426861.1
Submitted: (Aug 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: LAMB3 c.1439C>T (p.Pro480Leu) results in a non-conservative amino acid change located in the Laminin EGF domain (IPR002049) of the encoded protein sequence. Four … (more)
Benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001101975.3
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa. Lucky AW Pediatric dermatology 2018 PMID: 29334134

Text-mined citations for rs61734494...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021