NM_033380.3(COL4A5):c.65_77del (p.Gln22fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 24, 2021
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:: RCV001052220.12

Allele description [Variation Report for NM_033380.3(COL4A5):c.65_77del (p.Gln22fs)]

NM_033380.3(COL4A5):c.65_77del (p.Gln22fs)

Gene:

COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq22.3

Genomic location:

Preferred name:

NM_033380.3(COL4A5):c.65_77del (p.Gln22fs)

HGVS:

NC_000023.11:g.108440190_108440202del
NG_011977.2:g.5267_5279del
NG_012059.2:g.4276_4288del
NM_000495.5:c.65_77del
NM_033380.3:c.65_77delMANE SELECT
NP_000486.1:p.Gln22fs
NP_203699.1:p.Gln22fs
LRG_232t1:c.65_77del
LRG_232t2:c.65_77del
LRG_232:g.5267_5279del
LRG_232p1:p.Gln22fs
LRG_232p2:p.Gln22fs
LRG_233:g.4276_4288del
NC_000023.10:g.107683417_107683429del
NC_000023.10:g.107683420_107683432del
NM_000495.3:c.65_77del
NM_000495.4:c.65_77del

Protein change:

Q22fs

Links:

dbSNP: rs281874760

NCBI 1000 Genomes Browser:

rs281874760

Molecular consequence:

NM_000495.5:c.65_77del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033380.3:c.65_77del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001216420	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 24, 2021)	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

SCV001216420

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 24, 2021)

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

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, SCV001216420.3

#	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: Nov 3, 2024

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