NM_006979.3(SLC39A7):c.180_197del (p.Ala61_His66del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 13, 2022
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:: RCV001958409.5

Allele description [Variation Report for NM_006979.3(SLC39A7):c.180_197del (p.Ala61_His66del)]

NM_006979.3(SLC39A7):c.180_197del (p.Ala61_His66del)

Gene:

SLC39A7:solute carrier family 39 member 7 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p21.32

Genomic location:

Preferred name:

NM_006979.3(SLC39A7):c.180_197del (p.Ala61_His66del)

HGVS:

NC_000006.12:g.33201425_33201442del
NG_023374.1:g.4218_4235del
NM_001077516.2:c.180_197del
NM_001288777.2:c.52+37_52+54del
NM_006979.3:c.180_197delMANE SELECT
NP_001070984.1:p.Ala61_His66del
NP_008910.2:p.Ala61_His66del
NC_000006.11:g.33169198_33169215del
NC_000006.11:g.33169202_33169219del

Links:

dbSNP: rs760252457

NCBI 1000 Genomes Browser:

rs760252457

Molecular consequence:

NM_001077516.2:c.180_197del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_006979.3:c.180_197del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001288777.2:c.52+37_52+54del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV002217872	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 13, 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

SCV002217872

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 13, 2022)

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, SCV002217872.2

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

Description

This variant, c.180_197del, results in the deletion of 6 amino acid(s) of the SLC39A7 protein (p.Ala61_His66del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760252457, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SLC39A7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1446029). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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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