NC_000014.9:g.(?_104677659)_(104957672_?)del AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 25, 2019
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:: RCV001032275.2

Allele description [Variation Report for NC_000014.9:g.(?_104677659)_(104957672_?)del]

NC_000014.9:g.(?_104677659)_(104957672_?)del

Genes:

AHNAK2:AHNAK nucleoprotein 2 [Gene - OMIM - HGNC]
AKT1:AKT serine/threonine kinase 1 [Gene - OMIM - HGNC]
SIVA1:SIVA1 apoptosis inducing factor [Gene - OMIM - HGNC]
ADSS1:adenylosuccinate synthase 1 [Gene - OMIM - HGNC]
CEP170B:centrosomal protein 170B [Gene - OMIM - HGNC]
INF2:inverted formin 2 [Gene - OMIM - HGNC]
PLD4:phospholipase D family member 4 [Gene - OMIM - HGNC]
ZBTB42:zinc finger and BTB domain containing 42 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

14q32.33

Genomic location:

Chr14: 105143996 - 105424009 (on Assembly GRCh37)

Preferred name:

NC_000014.9:g.(?_104677659)_(104957672_?)del

HGVS:

NC_000014.9:g.(?_104677659)_(104957672_?)del
NC_000014.8:g.(?_105143996)_(105424009_?)del

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001195582	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 25, 2019)	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

SCV001195582

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 25, 2019)

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	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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001195582.1

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

Description

A gross deletion of the genomic region encompassing the full coding sequence of the ADSSL1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. A similar deletion has not been reported in the literature in individuals with ADSSL1-related conditions. Loss-of-function variants in ADSSL1 are known to be pathogenic (PMID: 26506222). For these reasons, this variant has been classified as Pathogenic.

#	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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