NM_015054.2(BLTP3B):c.2960G>C (p.Ser987Thr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 26, 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:: RCV004431760.1

Allele description [Variation Report for NM_015054.2(BLTP3B):c.2960G>C (p.Ser987Thr)]

NM_015054.2(BLTP3B):c.2960G>C (p.Ser987Thr)

Gene:

BLTP3B:bridge-like lipid transfer protein family member 3B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.1

Genomic location:

Preferred name:

NM_015054.2(BLTP3B):c.2960G>C (p.Ser987Thr)

HGVS:

NC_000012.12:g.100058317C>G
NM_015054.2:c.2960G>CMANE SELECT
NP_055869.1:p.Ser987Thr
NC_000012.11:g.100452095C>G
NM_015054.1:c.2960G>C

Protein change:

S987T

Molecular consequence:

NM_015054.2:c.2960G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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M.small er, Cyrillic (49)
MedGen
Taxonomy Links for Nucleotide (Select 1675158144) (1)
Taxonomy
OMIM Links for Nucleotide (Select 56605753) (2)
OMIM
PREDICTED: Mus musculus phosphofructokinase, muscle (Pfkm), transcript variant X...
PREDICTED: Mus musculus phosphofructokinase, muscle (Pfkm), transcript variant X2, mRNA
gi|1720383668|ref|XM_030248412.1|

Nucleotide
Dendrocopos syriacus myoglobin gene, intron 2
Dendrocopos syriacus myoglobin gene, intron 2
gi|557740695|gb|KF445352.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004915601	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 26, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004915601

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 26, 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, SCV004915601.1

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

Description

The c.2960G>C (p.S987T) alteration is located in exon 14 (coding exon 14) of the UHRF1BP1L gene. This alteration results from a G to C substitution at nucleotide position 2960, causing the serine (S) at amino acid position 987 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: May 7, 2024

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