NM_002206.3(ITGA7):c.2988_2989inv (p.Ile997Leu) AND Congenital muscular dystrophy due to integrin alpha-7 deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 15, 2023
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:: RCV003486119.2

Allele description [Variation Report for NM_002206.3(ITGA7):c.2988_2989inv (p.Ile997Leu)]

NM_002206.3(ITGA7):c.2988_2989inv (p.Ile997Leu)

Gene:

ITGA7:integrin subunit alpha 7 [Gene - OMIM - HGNC]

Variant type:

Inversion

Cytogenetic location:

12q13.2

Genomic location:

Preferred name:

NM_002206.3(ITGA7):c.2988_2989inv (p.Ile997Leu)

HGVS:

NC_000012.12:g.55688270_55688271inv
NG_012343.1:g.29035_29036inv
NM_001144996.2:c.3000_3001inv
NM_001144997.2:c.2709_2710inv
NM_001367993.1:c.2661_2662inv
NM_001367994.1:c.1644_1645inv
NM_001374465.1:c.2970_2971inv
NM_001410977.1:c.3120_3121inv
NM_001414029.1:c.2982_2983inv
NM_001414030.1:c.2913_2914inv
NM_001414031.1:c.2901_2902inv
NM_001414032.1:c.2868_2869inv
NM_001414033.1:c.2805_2806inv
NM_001414034.1:c.2763_2764inv
NM_001414035.1:c.2649_2650inv
NM_002206.3:c.2988_2989invMANE SELECT
NP_001138468.1:p.Ile1001Leu
NP_001138469.1:p.Ile904Leu
NP_001138469.1:p.Ile904Leu
NP_001354922.1:p.Ile888Leu
NP_001354923.1:p.Ile549Leu
NP_001361394.1:p.Ile991Leu
NP_001397906.1:p.Ile1041Leu
NP_001400958.1:p.Ile995Leu
NP_001400959.1:p.Ile972Leu
NP_001400960.1:p.Ile968Leu
NP_001400961.1:p.Ile957Leu
NP_001400962.1:p.Ile936Leu
NP_001400963.1:p.Ile922Leu
NP_001400964.1:p.Ile884Leu
NP_002197.2:p.Ile997Leu
LRG_871t1:c.2988_2989inv
LRG_871t2:c.2709_2710invGA
LRG_871:g.29035_29036inv
LRG_871p1:p.Ile997Leu
LRG_871p2:p.Ile904Leu
NC_000012.11:g.56082054_56082055inv
NM_001144997.1:c.2709_2710invGA
NM_002206.3:c.2988_2989delinsTCMANE SELECT

Protein change:

I1001L

Molecular consequence:

NM_001144996.2:c.3000_3001inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001144997.2:c.2709_2710inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001367993.1:c.2661_2662inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001367994.1:c.1644_1645inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001374465.1:c.2970_2971inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001410977.1:c.3120_3121inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001414029.1:c.2982_2983inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001414030.1:c.2913_2914inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001414031.1:c.2901_2902inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001414032.1:c.2868_2869inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001414033.1:c.2805_2806inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001414034.1:c.2763_2764inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001414035.1:c.2649_2650inv - missense variant - [Sequence Ontology: SO:0001583]
NM_002206.3:c.2988_2989inv - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital muscular dystrophy due to integrin alpha-7 deficiency
Synonyms:: MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY; Congenital muscular dystrophy with integrin alpha-7 deficiency; Muscular dystrophy, congenital, due to ITGA7 deficiency
Identifiers:: MONDO: MONDO:0013177; MedGen: C2750786; Orphanet: 34520; OMIM: 613204

Recent activity

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trace amine-associated receptor 7a-like [Loxodonta africana]
trace amine-associated receptor 7a-like [Loxodonta africana]
gi|344264131|ref|XP_003404147.1|

Protein
LOW QUALITY PROTEIN: trace amine-associated receptor 9-like [Loxodonta africana]
LOW QUALITY PROTEIN: trace amine-associated receptor 9-like [Loxodonta africana]
gi|1328706119|ref|XP_010586702.2|

Protein
uncharacterized protein CHLRE_12g540150v5 [Chlamydomonas reinhardtii]
uncharacterized protein CHLRE_12g540150v5 [Chlamydomonas reinhardtii]
gi|2082262675|ref|XP_042919223.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004235820	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 15, 2023)	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

SCV004235820

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 15, 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	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 Revvity Omics, Revvity, SCV004235820.1

#	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: Mar 16, 2024

ClinVar

Relating variation to medicine