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NM_001371596.2(MFSD8):c.18C>G (p.Asn6Lys) AND Neuronal ceroid lipofuscinosis 7

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
May 17, 2022
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:
RCV000684990.8

Allele description [Variation Report for NM_001371596.2(MFSD8):c.18C>G (p.Asn6Lys)]

NM_001371596.2(MFSD8):c.18C>G (p.Asn6Lys)

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.18C>G (p.Asn6Lys)
HGVS:
  • NC_000004.12:g.127965116G>C
  • NG_008657.1:g.5869C>G
  • NG_103459.1:g.227G>C
  • NM_001363520.3:c.18C>G
  • NM_001363521.3:c.18C>G
  • NM_001371590.2:c.-74+781C>G
  • NM_001371591.2:c.18C>G
  • NM_001371592.2:c.18C>G
  • NM_001371593.2:c.18C>G
  • NM_001371594.2:c.18C>G
  • NM_001371595.1:c.-116C>G
  • NM_001371596.2:c.18C>GMANE SELECT
  • NM_001410765.1:c.-74+781C>G
  • NM_001410766.1:c.18C>G
  • NM_152778.4:c.18C>G
  • NP_001350449.1:p.Asn6Lys
  • NP_001350450.1:p.Asn6Lys
  • NP_001358520.1:p.Asn6Lys
  • NP_001358521.1:p.Asn6Lys
  • NP_001358522.1:p.Asn6Lys
  • NP_001358523.1:p.Asn6Lys
  • NP_001358525.1:p.Asn6Lys
  • NP_001397695.1:p.Asn6Lys
  • NP_689991.1:p.Asn6Lys
  • LRG_833t1:c.18C>G
  • LRG_833t2:c.18C>G
  • LRG_833:g.5869C>G
  • LRG_833p1:p.Asn6Lys
  • LRG_833p2:p.Asn6Lys
  • NC_000004.11:g.128886271G>C
  • NM_152778.2:c.18C>G
Protein change:
N6K
Links:
dbSNP: rs771879274
NCBI 1000 Genomes Browser:
rs771879274
Molecular consequence:
  • NM_001371595.1:c.-116C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371590.2:c.-74+781C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001410765.1:c.-74+781C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363520.3:c.18C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363521.3:c.18C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371591.2:c.18C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371592.2:c.18C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371593.2:c.18C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371594.2:c.18C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371596.2:c.18C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410766.1:c.18C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152778.4:c.18C>G - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000812458Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(May 17, 2022)
germlineclinical testing

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

SCV001712368Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(May 18, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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

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

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000812458.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 6 of the MFSD8 protein (p.Asn6Lys). This variant is present in population databases (rs771879274, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. ClinVar contains an entry for this variant (Variation ID: 565428). 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Genome-Nilou Lab, SCV001712368.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024