NM_005559.4(LAMA1):c.7659C>G (p.Asn2553Lys) AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Dec 22, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000907673.26

Allele description [Variation Report for NM_005559.4(LAMA1):c.7659C>G (p.Asn2553Lys)]

NM_005559.4(LAMA1):c.7659C>G (p.Asn2553Lys)

Genes:

LOC126862685:BRD4-independent group 4 enhancer GRCh37_chr18:6958646-6959845 [Gene]
LAMA1:laminin subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18p11.31

Genomic location:

Preferred name:

NM_005559.4(LAMA1):c.7659C>G (p.Asn2553Lys)

HGVS:

NC_000018.10:g.6959460G>C
NG_034251.1:g.163355C>G
NM_005559.4:c.7659C>GMANE SELECT
NP_005550.2:p.Asn2553Lys
NC_000018.9:g.6959459G>C
NC_000018.9:g.6959459G>C
NM_005559.3:c.7659C>G

Protein change:

N2553K

Links:

dbSNP: rs143933905

NCBI 1000 Genomes Browser:

rs143933905

Molecular consequence:

NM_005559.4:c.7659C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Capra hircus breed San Clemente unplaced genomic scaffold, ASM170441v1, whole ge...
Capra hircus breed San Clemente unplaced genomic scaffold, ASM170441v1, whole genome shotgun sequence
gi|1060060743|gnl|ASM:GCF_001704425 affold_65|ref|NW_017190129.1||gpp|GPS_014012597.1|

Nucleotide
SAMN00619207 (2)
SRA
Homo sapiens MT-ND5 pseudogene 2 (MTND5P2) on chromosome 13
Homo sapiens MT-ND5 pseudogene 2 (MTND5P2) on chromosome 13
gi|383792135|ref|NG_032375.1|

Nucleotide
Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA
Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA
gi|1653962267|ref|NM_022134.3|

Nucleotide
Nemadactylus macropterus isolate Namamarc.1 recombination activating protein 2 g...
Nemadactylus macropterus isolate Namamarc.1 recombination activating protein 2 gene, partial cds
gi|2293348456|gb|MW847596.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001052395	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 22, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001961737	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Feb 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001052395

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 22, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001961737

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Feb 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001052395.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV001961737.20

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

Description

LAMA1: BP4

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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