NM_004360.5(CDH1):c.1711+9G>A AND not provided

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Sep 10, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000679564.8

Allele description [Variation Report for NM_004360.5(CDH1):c.1711+9G>A]

NM_004360.5(CDH1):c.1711+9G>A

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

Preferred name:

NM_004360.5(CDH1):c.1711+9G>A

HGVS:

NC_000016.10:g.68819434G>A
NG_008021.1:g.87143G>A
NM_001317184.2:c.1528+9G>A
NM_001317185.2:c.163+9G>A
NM_001317186.2:c.-254-2567G>A
NM_004360.5:c.1711+9G>AMANE SELECT
LRG_301t1:c.1711+9G>A
LRG_301:g.87143G>A
NC_000016.9:g.68853337G>A
NM_004360.3:c.1711+9G>A
NM_004360.4:c.1711+9G>A

Links:

dbSNP: rs368770384

NCBI 1000 Genomes Browser:

rs368770384

Molecular consequence:

NM_001317184.2:c.1528+9G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001317185.2:c.163+9G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001317186.2:c.-254-2567G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_004360.5:c.1711+9G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Klrg1 killer cell lectin-like receptor subfamily G, member 1 [Mus musculus]
Klrg1 killer cell lectin-like receptor subfamily G, member 1 [Mus musculus]
Gene ID:50928

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000806641	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jul 14, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001469487	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Benign (Sep 10, 2020)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 32107087, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000806641

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jul 14, 2017)

germline

clinical testing

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

SCV001469487

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Benign
(Sep 10, 2020)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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
not provided	unknown	unknown	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

Polymorphisms and rare variants identified by next-generation sequencing confer risk for lung cancer in han Chinese population.

Li X, Liu J, Wang K, Zhou J, Zhang H, Zhang M, Shi Y.

Pathol Res Pract. 2020 Apr;216(4):152873. doi: 10.1016/j.prp.2020.152873. Epub 2020 Feb 13.

PubMed [citation]

PMID:: 32107087

See all PubMed Citations (3)

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000806641.1

#	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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469487.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Sep 29, 2024

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