NM_024675.4(PALB2):c.212-10del AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Dec 20, 2022)
Review status:2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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Based on:: 3 submissions [Details]
Record status:: current
Accession:: RCV000580912.5

Allele description [Variation Report for NM_024675.4(PALB2):c.212-10del]

NM_024675.4(PALB2):c.212-10del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

NM_024675.4(PALB2):c.212-10del

HGVS:

NC_000016.10:g.23636350del
NC_000016.9:g.23647671delA
NG_007406.1:g.10014del
NM_024675.4:c.212-10delMANE SELECT
LRG_308t1:c.212-10del
LRG_308:g.10014del
NC_000016.9:g.23647665del
NC_000016.9:g.23647671del
NC_000016.9:g.23647671delA
NM_024675.3:c.212-10del
NM_024675.3:c.212-10delT
NM_024675.4:c.212-10delTMANE SELECT

Links:

dbSNP: rs766487430

NCBI 1000 Genomes Browser:

rs766487430

Molecular consequence:

NM_024675.4:c.212-10del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000685919	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter ACMG Guidelines, 2015	Likely benign (Apr 4, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002530671	Sema4,Sema4	criteria provided, single submitter Sema4 Curation Guidelines	Likely benign (Nov 27, 2021)	germline	curation	Citation Link,
SCV002819251	Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	criteria provided, single submitter ACMG Guidelines, 2015	Likely benign (Dec 20, 2022)	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

SCV000685919

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

ACMG Guidelines, 2015

Likely benign
(Apr 4, 2016)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002530671

Sema4,Sema4

criteria provided, single submitter

Sema4 Curation Guidelines

Likely benign
(Nov 27, 2021)

germline

curation

Citation Link,

SCV002819251

Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.

criteria provided, single submitter

ACMG Guidelines, 2015

Likely benign
(Dec 20, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

Help

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, curation

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 Color Diagnostics, LLC DBA Color Health, SCV000685919.2

#	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

From Sema4,Sema4, SCV002530671.1

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

#	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

From Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C., SCV002819251.1

#	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: Jan 21, 2023

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