NM_000789.4(ACE):c.3521del (p.Gly1174fs) AND Hemorrhage, intracerebral, susceptibility to

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 29, 2018
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:: RCV001336990.1

Allele description [Variation Report for NM_000789.4(ACE):c.3521del (p.Gly1174fs)]

NM_000789.4(ACE):c.3521del (p.Gly1174fs)

Gene:

ACE:angiotensin I converting enzyme [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q23.3

Genomic location:

Preferred name:

NM_000789.4(ACE):c.3521del (p.Gly1174fs)

HGVS:

NC_000017.11:g.63496815del
NG_011648.1:g.24743del
NM_000789.4:c.3521delMANE SELECT
NM_001178057.2:c.1676del
NM_001382700.1:c.2954del
NM_001382701.1:c.2669del
NM_001382702.1:c.1136del
NM_152830.3:c.1799del
NP_000780.1:p.Gly1174fs
NP_001171528.1:p.Gly559fs
NP_001369629.1:p.Gly985fs
NP_001369630.1:p.Gly890fs
NP_001369631.1:p.Gly379fs
NP_690043.1:p.Gly600fs
NC_000017.10:g.61574176del
NM_000789.3:c.3519delG
NM_000789.3:c.3521delG
NR_168483.1:n.1899del

Protein change:

G1174fs

Links:

dbSNP: rs754265941

NCBI 1000 Genomes Browser:

rs754265941

Molecular consequence:

NM_000789.4:c.3521del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001178057.2:c.1676del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382700.1:c.2954del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382701.1:c.2669del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382702.1:c.1136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_152830.3:c.1799del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_168483.1:n.1899del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hemorrhage, intracerebral, susceptibility to (ICH)
Synonyms:: Stroke, hemorrhagic, susceptibility to
Identifiers:: MONDO: MONDO:0100533; MedGen: C3281105; OMIM: 614519

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001530543	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 29, 2018)	maternal	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

SCV001530543

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 29, 2018)

maternal

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	maternal	yes	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 Baylor Genetics, SCV001530543.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Oct 13, 2024

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