NM_033380.3(COL4A5):c.3585del (p.Gly1196fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 28, 2017
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:: RCV000710876.2

Allele description [Variation Report for NM_033380.3(COL4A5):c.3585del (p.Gly1196fs)]

NM_033380.3(COL4A5):c.3585del (p.Gly1196fs)

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.3585del (p.Gly1196fs)

HGVS:

NC_000023.11:g.108667164del
NG_011977.2:g.232241del
NM_000495.5:c.3585del
NM_033380.3:c.3585delMANE SELECT
NP_000486.1:p.Gly1196fs
NP_203699.1:p.Gly1196fs
LRG_232t1:c.3585del
LRG_232t2:c.3585del
LRG_232:g.232241del
LRG_232p1:p.Gly1196fs
LRG_232p2:p.Gly1196fs
NC_000023.10:g.107910394del
NG_011977.1:g.232241del
NM_033380.1:c.3585del

Protein change:

G1196fs

Links:

dbSNP: rs1569505604

NCBI 1000 Genomes Browser:

rs1569505604

Molecular consequence:

NM_000495.5:c.3585del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033380.3:c.3585del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

hypothetical protein HMPREF2811_06890 [Globicatella sp. HMSC072A10]
hypothetical protein HMPREF2811_06890 [Globicatella sp. HMSC072A10]
gi|1080263887|gb|OFK56948.1||gnl|WG S|HMPREF2811_06890

Protein
DUF2955 domain-containing protein [Lelliottia amnigena]
DUF2955 domain-containing protein [Lelliottia amnigena]
gi|1258099347|gb|PEG66883.1||gnl|WG A|CRH15_00625

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000841184	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Sep 28, 2017)	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

SCV000841184

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Sep 28, 2017)

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

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

Details of each submission

From Athena Diagnostics, SCV000841184.1

#	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: May 7, 2024

ClinVar

Relating variation to medicine