NM_145167.3(PIGM):c.929_937del (p.Tyr310_Leu313delinsPhe) AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 10, 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:: RCV002253050.2

Allele description [Variation Report for NM_145167.3(PIGM):c.929_937del (p.Tyr310_Leu313delinsPhe)]

NM_145167.3(PIGM):c.929_937del (p.Tyr310_Leu313delinsPhe)

Gene:

PIGM:phosphatidylinositol glycan anchor biosynthesis class M [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q23.2

Genomic location:

Preferred name:

NM_145167.3(PIGM):c.929_937del (p.Tyr310_Leu313delinsPhe)

HGVS:

NC_000001.11:g.160030803_160030811del
NG_012238.1:g.6183_6191del
NM_145167.3:c.929_937delMANE SELECT
NP_660150.1:p.Tyr310_Leu313delinsPhe
NC_000001.10:g.160000593_160000601del

Links:

dbSNP: rs2101919624

NCBI 1000 Genomes Browser:

rs2101919624

Molecular consequence:

NM_145167.3:c.929_937del - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002523145	Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 10, 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

SCV002523145

Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 10, 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	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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002523145.1

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

Description

ACMG classification criteria: PM2, PM4

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

Last Updated: Dec 24, 2023

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