NM_000091.5(COL4A3):c.87+24del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 17, 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:: RCV003684858.2

Allele description [Variation Report for NM_000091.5(COL4A3):c.87+24del]

NM_000091.5(COL4A3):c.87+24del

Genes:

LOC129935730:ATAC-STARR-seq lymphoblastoid silent region 12397 [Gene]
COL4A3:collagen type IV alpha 3 chain [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q36.3

Genomic location:

Preferred name:

NM_000091.5(COL4A3):c.87+24del

HGVS:

NC_000002.12:g.227164837del
NG_011591.1:g.5273del
NG_011592.1:g.4727del
NG_168741.1:g.260del
NM_000091.5:c.87+24delMANE SELECT
LRG_230:g.5273del
LRG_231:g.4727del
NC_000002.11:g.228029549del
NC_000002.11:g.228029553del

Molecular consequence:

NM_000091.5:c.87+24del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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ATP synthase CF1 beta subunit, partial (chloroplast) [Erodium guttatum]
ATP synthase CF1 beta subunit, partial (chloroplast) [Erodium guttatum]
gi|557477971|gb|AHA11157.1|

Protein
LOC105369161 [Homo sapiens]
LOC105369161 [Homo sapiens]
Gene ID:105369161

Gene
ASH2LP4 ASH2L pseudogene 4 [Homo sapiens]
ASH2LP4 ASH2L pseudogene 4 [Homo sapiens]
Gene ID:100736412

Gene
MRPS16P3 mitochondrial ribosomal protein S16 pseudogene 3 [Homo sapiens]
MRPS16P3 mitochondrial ribosomal protein S16 pseudogene 3 [Homo sapiens]
Gene ID:338388

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004405151	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jul 17, 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

SCV004405151

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jul 17, 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

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, SCV004405151.1

#	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: Sep 29, 2024

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