NM_001375567.1(FOCAD):c.392+26dup AND not provided

Germline classification:: Benign (2 submissions)
Last evaluated:: Feb 1, 2024
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:: RCV001536260.4

Allele description [Variation Report for NM_001375567.1(FOCAD):c.392+26dup]

NM_001375567.1(FOCAD):c.392+26dup

Gene:

FOCAD:focadhesin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

9p21.3

Genomic location:

Preferred name:

NM_001375567.1(FOCAD):c.392+26dup

HGVS:

NC_000009.12:g.20740366dup
NM_001375567.1:c.392+26dupMANE SELECT
NM_001375568.1:c.392+26dup
NM_001375570.1:c.288-17724dup
NM_017794.5:c.392+26dup
NC_000009.11:g.20740355_20740356insT
NC_000009.11:g.20740365dup

Links:

dbSNP: rs57561334

NCBI 1000 Genomes Browser:

rs57561334

Molecular consequence:

NM_001375567.1:c.392+26dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001375568.1:c.392+26dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001375570.1:c.288-17724dup - intron variant - [Sequence Ontology: SO:0001627]
NM_017794.5:c.392+26dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Mus musculus guanine nucleotide binding protein, alpha O (Gnao1), transcript var...
Mus musculus guanine nucleotide binding protein, alpha O (Gnao1), transcript variant A, mRNA
gi|2413836566|ref|NM_010308.4|

Nucleotide
RecName: Full=Adenosine 5'-monophosphoramidase HINT3; AltName: Full=HINT-4; AltN...
RecName: Full=Adenosine 5'-monophosphoramidase HINT3; AltName: Full=HINT-4; AltName: Full=Histidine triad nucleotide-binding protein 3; Short=HINT-3
gi|81880343|sp|Q9CPS6.1|HINT3_MOUSE

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001752992	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Aug 16, 2019)	germline	clinical testing	Citation Link,
SCV004635380	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	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

SCV001752992

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Aug 16, 2019)

germline

clinical testing

Citation Link,

SCV004635380

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Feb 1, 2024)

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From GeneDx, SCV001752992.1

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004635380.1

#	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: Sep 29, 2024

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