NM_001371596.2(MFSD8):c.1116T>A (p.Asn372Lys) AND Neuronal ceroid lipofuscinosis 7

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 31, 2021
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:: RCV001349384.3

Allele description

NM_001371596.2(MFSD8):c.1116T>A (p.Asn372Lys)

Gene:

MFSD8:major facilitator superfamily domain containing 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q28.2

Genomic location:

Preferred name:

NM_001371596.2(MFSD8):c.1116T>A (p.Asn372Lys)

HGVS:

NC_000004.12:g.127921758A>T
NG_008657.1:g.49227T>A
NM_001363520.3:c.915T>A
NM_001363521.3:c.801T>A
NM_001371590.2:c.981T>A
NM_001371591.2:c.1116T>A
NM_001371592.2:c.1122T>A
NM_001371593.2:c.1002T>A
NM_001371594.2:c.969T>A
NM_001371595.1:c.834T>A
NM_001371596.2:c.1116T>AMANE SELECT
NM_001410765.1:c.666T>A
NM_001410766.1:c.*1T>A
NM_152778.4:c.1116T>A
NP_001350449.1:p.Asn305Lys
NP_001350449.1:p.Asn305Lys
NP_001350450.1:p.Asn267Lys
NP_001350450.1:p.Asn267Lys
NP_001358519.1:p.Asn327Lys
NP_001358519.1:p.Asn327Lys
NP_001358520.1:p.Asn372Lys
NP_001358520.1:p.Asn372Lys
NP_001358521.1:p.Asn374Lys
NP_001358521.1:p.Asn374Lys
NP_001358522.1:p.Asn334Lys
NP_001358522.1:p.Asn334Lys
NP_001358523.1:p.Asn323Lys
NP_001358523.1:p.Asn323Lys
NP_001358524.1:p.Asn278Lys
NP_001358525.1:p.Asn372Lys
NP_001397694.1:p.Asn222Lys
NP_689991.1:p.Asn372Lys
LRG_833t1:c.1116T>A
LRG_833t2:c.1116T>A
LRG_833:g.49227T>A
LRG_833p1:p.Asn372Lys
LRG_833p2:p.Asn372Lys
NC_000004.11:g.128842913A>T
NM_001363520.2:c.915T>A
NM_001363521.2:c.801T>A
NM_001371590.1:c.981T>A
NM_001371591.1:c.1116T>A
NM_001371592.1:c.1122T>A
NM_001371593.1:c.1002T>A
NM_001371594.1:c.969T>A

Protein change:

N222K

Links:

dbSNP: rs758114648

NCBI 1000 Genomes Browser:

rs758114648

Molecular consequence:

NM_001363520.3:c.915T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001363521.3:c.801T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371590.2:c.981T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371591.2:c.1116T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371592.2:c.1122T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371593.2:c.1002T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371594.2:c.969T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371595.1:c.834T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371596.2:c.1116T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001410765.1:c.666T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_152778.4:c.1116T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neuronal ceroid lipofuscinosis 7 (CLN7)
Synonyms:: MFSD8-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:: MONDO: MONDO:0012588; MedGen: C1838571; Orphanet: 168491; Orphanet: 228366; OMIM: 610951

Recent activity

Clear Turn Off Turn On

Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), tran...
Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 2, mRNA
gi|26667195|ref|NM_172169.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001543727	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 31, 2021)	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

SCV001543727

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 31, 2021)

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 Invitae, SCV001543727.2

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

Description

This sequence change replaces asparagine with lysine at codon 372 of the MFSD8 protein (p.Asn372Lys). The asparagine residue is weakly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs758114648, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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: Jul 15, 2024

ClinVar

Relating variation to medicine