NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) AND Colonic neoplasm

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 12, 2021
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001653830.3

Allele description [Variation Report for NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs)]

NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs)

Gene:

PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs)

HGVS:

NC_000016.10:g.23634873ATAA[1]
NC_000016.9:g.23646193_23646196del
NG_007406.1:g.11479TATT[1]
NM_024675.4:c.1671_1674delMANE SELECT
NP_078951.2:p.Ile558fs
LRG_308t1:c.1671_1674del
LRG_308:g.11479TATT[1]
NC_000016.9:g.23646193_23646196delAATA
NC_000016.9:g.23646194ATAA[1]
NM_024675.3:c.1671_1674delTATT

Protein change:

I558fs

Links:

dbSNP: rs1060502734

NCBI 1000 Genomes Browser:

rs1060502734

Molecular consequence:

NM_024675.4:c.1671_1674del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Colonic neoplasm
Synonyms:: Colonic Neoplasms; Neoplasm of the colon
Identifiers:: MONDO: MONDO:0005401; MeSH: D003110; MedGen: C0009375; Human Phenotype Ontology: HP:0100273

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001870402	Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences	no assertion criteria provided	Pathogenic (Sep 12, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001870402

Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences

no assertion criteria provided

Pathogenic
(Sep 12, 2021)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences, SCV001870402.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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