NM_080669.6(SLC46A1):c.1334del (p.Lys445fs) AND Congenital defect of folate absorption

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 11, 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:: RCV003138282.3

Allele description [Variation Report for NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)]

NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)

Genes:

SLC46A1:solute carrier family 46 member 1 [Gene - OMIM - HGNC]
SARM1:sterile alpha and TIR motif containing 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)

HGVS:

NC_000017.11:g.28399705del
NG_013306.1:g.11510del
NM_001242366.3:c.1250del
NM_015077.4:c.*3419delMANE SELECT
NM_080669.6:c.1334delMANE SELECT
NP_001229295.1:p.Lys417fs
NP_542400.2:p.Lys445Argfs
NP_542400.2:p.Lys445fs
LRG_183t1:c.1331del
LRG_183:g.11510del
LRG_183p1:p.Lys445Argfs
NC_000017.10:g.26726721del
NM_080669.3:c.1331delA
NM_080669.5:c.1334delA

Protein change:

K417fs

Molecular consequence:

NM_015077.4:c.*3419del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001242366.3:c.1250del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_080669.6:c.1334del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Congenital defect of folate absorption
Synonyms:: Hereditary Folate Malabsorption
Identifiers:: MONDO: MONDO:0009238; MedGen: C0342705; Orphanet: 90045; OMIM: 229050

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003821381	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 11, 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

SCV003821381

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 11, 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

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 Revvity Omics, Revvity, SCV003821381.2

#	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 1, 2024

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