NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=) AND Agammaglobulinemia 5, autosomal dominant

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Oct 14, 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:: RCV001001645.14

Allele description [Variation Report for NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=)]

NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=)

Gene:

LRRC8A:leucine rich repeat containing 8 VRAC subunit A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=)

HGVS:

NC_000009.12:g.128908622C>T
NG_009630.1:g.31511C>T
NM_001127244.2:c.1458C>T
NM_001127245.2:c.1458C>T
NM_019594.4:c.1458C>TMANE SELECT
NP_001120716.1:p.Pro486=
NP_001120717.1:p.Pro486=
NP_062540.2:p.Pro486=
NP_062540.2:p.Pro486=
LRG_80t1:c.1458C>T
LRG_80:g.31511C>T
LRG_80p1:p.Pro486=
NC_000009.11:g.131670901C>T
NM_019594.3:c.1458C>T

Links:

dbSNP: rs11999276

NCBI 1000 Genomes Browser:

rs11999276

Molecular consequence:

NM_001127244.2:c.1458C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001127245.2:c.1458C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_019594.4:c.1458C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Agammaglobulinemia 5, autosomal dominant (AGM5)
Synonyms:: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT
Identifiers:: MONDO: MONDO:0013290; MedGen: C3150753; OMIM: 613506

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001159152	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Oct 14, 2023)	germline	clinical testing	Citation Link,
SCV002813644	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Dec 23, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001159152

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Oct 14, 2023)

germline

clinical testing

Citation Link,

SCV002813644

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Dec 23, 2021)

unknown

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001159152.6

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

#	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 Fulgent Genetics, Fulgent Genetics, SCV002813644.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 19, 2024

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