NM_018359.5(UFSP2):c.1340A>C (p.Lys447Thr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 7, 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:: RCV004097209.1

Allele description [Variation Report for NM_018359.5(UFSP2):c.1340A>C (p.Lys447Thr)]

NM_018359.5(UFSP2):c.1340A>C (p.Lys447Thr)

Genes:

UFSP2:UFM1 specific peptidase 2 [Gene - OMIM - HGNC]
ANKRD37:ankyrin repeat domain 37 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q35.1

Genomic location:

Preferred name:

NM_018359.5(UFSP2):c.1340A>C (p.Lys447Thr)

HGVS:

NC_000004.12:g.185400462T>G
NG_051609.1:g.30524A>C
NG_051609.2:g.30502A>C
NM_018359.5:c.1340A>CMANE SELECT
NP_060829.2:p.Lys447Thr
NC_000004.11:g.186321616T>G
NM_018359.3:c.1340A>C
NR_028085.2:n.1411A>C
NR_144317.2:n.1539A>C

Protein change:

K447T

Molecular consequence:

NM_018359.5:c.1340A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_028085.2:n.1411A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_144317.2:n.1539A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Homo sapiens partial GK gene for glycerol kinase, exon 1 (glycerol kinase defici...
Homo sapiens partial GK gene for glycerol kinase, exon 1 (glycerol kinase deficiency case)
gi|5834425|emb|AJ252550.1|

Nucleotide
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]
gi|189065520|dbj|BAG35359.1|

Protein
BB183144 RIKEN full-length enriched, adult male hypothalamus Mus musculus cDNA c...
BB183144 RIKEN full-length enriched, adult male hypothalamus Mus musculus cDNA clone A230104G01 3', mRNA sequence
gi|16270204|gnl|dbEST|9909955|dbj|B 44.2|

Nucleotide
Phytophthora infestans isolate P3685 N-(5'-phosphoribosyl)anthranilate isomerase...
Phytophthora infestans isolate P3685 N-(5'-phosphoribosyl)anthranilate isomerase indole-3-glycerol-phosphate synthase gene, partial cds
gi|371769303|gb|JN664239.1|

Nucleotide
amyloid beta precursor protein binding family B member 2 isoform 5 [Mus musculus...
amyloid beta precursor protein binding family B member 2 isoform 5 [Mus musculus]
gi|319738665|ref|NP_001188345.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003564039	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 7, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003564039

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 7, 2022)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV003564039.2

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

Description

The c.1340A>C (p.K447T) alteration is located in exon 12 (coding exon 12) of the UFSP2 gene. This alteration results from a A to C substitution at nucleotide position 1340, causing the lysine (K) at amino acid position 447 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Nov 3, 2024

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