NM_213599.3(ANO5):c.1563G>T (p.Leu521Phe) AND not provided

Germline classification:: Uncertain significance (4 submissions)
Last evaluated:: Oct 26, 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:: RCV000393887.12

Allele description [Variation Report for NM_213599.3(ANO5):c.1563G>T (p.Leu521Phe)]

NM_213599.3(ANO5):c.1563G>T (p.Leu521Phe)

Gene:

ANO5:anoctamin 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p14.3

Genomic location:

Preferred name:

NM_213599.3(ANO5):c.1563G>T (p.Leu521Phe)

HGVS:

NC_000011.10:g.22259674G>T
NG_015844.1:g.71499G>T
NM_001142649.2:c.1560G>T
NM_213599.3:c.1563G>TMANE SELECT
NP_001136121.1:p.Leu520Phe
NP_998764.1:p.Leu521Phe
NP_998764.1:p.Leu521Phe
LRG_868t1:c.1563G>T
LRG_868:g.71499G>T
LRG_868p1:p.Leu521Phe
NC_000011.9:g.22281220G>T
NM_213599.2:c.1563G>T

Protein change:

L520F

Links:

dbSNP: rs190937193

NCBI 1000 Genomes Browser:

rs190937193

Molecular consequence:

NM_001142649.2:c.1560G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_213599.3:c.1563G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Microbe sample from Mesorhizobium onobrychidis
Microbe sample from Mesorhizobium onobrychidis

biosample
Homo sapiens
Homo sapiens
Cyclin D1 determines estrogen dependent signaling in human breast cancer cell line MCF7

BioProject
XAC2610-related protein [Salmonella enterica]
XAC2610-related protein [Salmonella enterica]
gi|2179086245|ref|WP_234696427.1|

Protein
MULTISPECIES: XAC2610-related protein [Salmonella]
MULTISPECIES: XAC2610-related protein [Salmonella]
gi|446438456|ref|WP_000516311.1|

Protein
Pathogen: clinical or host-associated sample from Streptococcus agalactiae
Pathogen: clinical or host-associated sample from Streptococcus agalactiae

biosample

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000333440	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Jun 13, 2018)	germline	clinical testing	Citation Link,
SCV001817146	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 21, 2020)	germline	clinical testing	Citation Link,
SCV002771486	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Mar 10, 2022)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 30564623, 26467025
SCV003824490	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 26, 2023)	germline	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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	12	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

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, da Silva C, Beadling R, Alexander JJ, Askree SH, Whitt Z, Bean L, Collins C, Khadilkar S, Gaitonde P, Dastur R, Wicklund M, Mozaffar T, Harms M, Rufibach L, Mittal P, Hegde M.

Ann Clin Transl Neurol. 2018 Dec;5(12):1574-1587. doi: 10.1002/acn3.649.

PubMed [citation]

PMID:: 30564623
PMCID:: PMC6292381

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

See all PubMed Citations (3)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000333440.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	12	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		12	not provided	not provided	not provided

From GeneDx, SCV001817146.1

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individual with limb girdle muscular dystrophy; however, no further clinical information was provided (Nallamilli et al., 2018); This variant is associated with the following publications: (PMID: 30564623)

#	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		not provided	not provided	not provided	not provided

From Athena Diagnostics, SCV002771486.1

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

#	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

From Revvity Omics, Revvity, SCV003824490.2

#	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

Last Updated: Sep 29, 2024

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