NM_213599.3(ANO5):c.2004del (p.Leu669fs) AND multiple conditions

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jan 23, 2024
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:: RCV003483604.3

Allele description [Variation Report for NM_213599.3(ANO5):c.2004del (p.Leu669fs)]

NM_213599.3(ANO5):c.2004del (p.Leu669fs)

Gene:

ANO5:anoctamin 5 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p14.3

Genomic location:

Preferred name:

NM_213599.3(ANO5):c.2004del (p.Leu669fs)

HGVS:

NC_000011.10:g.22270417del
NG_015844.1:g.82242del
NM_001142649.2:c.2001del
NM_213599.3:c.2004delMANE SELECT
NP_001136121.1:p.Leu668fs
NP_998764.1:p.Leu669fs
LRG_868t1:c.2004del
LRG_868:g.82242del
NC_000011.9:g.22291961del
NC_000011.9:g.22291963del
NM_213599.2:c.2004del
NM_213599.2:c.2004delG
NM_213599.3:c.2004delGMANE SELECT

Protein change:

L668fs

Links:

dbSNP: rs886043172

NCBI 1000 Genomes Browser:

rs886043172

Molecular consequence:

NM_001142649.2:c.2001del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_213599.3:c.2004del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Gnathodiaphyseal dysplasia (GDD)
Synonyms:: GNATHODIAPHYSEAL SCLEROSIS; OSTEOGENESIS IMPERFECTA WITH UNUSUAL SKELETAL LESIONS; Osteogenesis imperfecta Levin type; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008151; MedGen: C1833736; OMIM: 166260

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2L (LGMDR12)
Synonyms:: Limb-girdle muscular dystrophy, type 2L; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12
Identifiers:: MONDO: MONDO:0012652; MedGen: C1969785; Orphanet: 206549; OMIM: 611307

Name:: Miyoshi muscular dystrophy 3 (MMD3)
Synonyms:: Miyoshi myopathy 3
Identifiers:: MONDO: MONDO:0013222; MedGen: C2750076; Orphanet: 399096; OMIM: 613319

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004228700	GenomeConnect - Invitae Patient Insights Network	no classification provided	not provided	unknown	phenotyping only
SCV005675915	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 23, 2024)	germline	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

SCV004228700

GenomeConnect - Invitae Patient Insights Network

no classification provided

not provided

unknown

phenotyping only

SCV005675915

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 23, 2024)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	1	not provided	not provided	1	not provided	phenotyping only

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 GenomeConnect - Invitae Patient Insights Network, SCV004228700.2

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

Description

Variant interpreted as Pathogenic and reported on 04-06-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

From Fulgent Genetics, Fulgent Genetics, SCV005675915.1

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

Last Updated: Apr 13, 2025

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