NM_001101669.3(INPP4B):c.940A>G (p.Ile314Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 26, 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:: RCV004200678.1

Allele description [Variation Report for NM_001101669.3(INPP4B):c.940A>G (p.Ile314Val)]

NM_001101669.3(INPP4B):c.940A>G (p.Ile314Val)

Gene:

INPP4B:inositol polyphosphate-4-phosphatase type II B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q31.21

Genomic location:

Preferred name:

NM_001101669.3(INPP4B):c.940A>G (p.Ile314Val)

HGVS:

NC_000004.12:g.142208923T>C
NM_001101669.3:c.940A>GMANE SELECT
NM_001331040.1:c.940A>G
NM_001385334.1:c.940A>G
NM_001385335.1:c.940A>G
NM_001385336.1:c.940A>G
NM_001385337.1:c.940A>G
NM_001385338.1:c.940A>G
NM_001385339.1:c.940A>G
NM_001385340.1:c.940A>G
NM_001385341.1:c.940A>G
NM_001385342.1:c.940A>G
NM_001385343.1:c.940A>G
NM_001385344.1:c.940A>G
NM_001385347.1:c.940A>G
NM_001385348.1:c.940A>G
NM_001385350.1:c.385A>G
NM_001385351.1:c.385A>G
NM_001385357.1:c.385A>G
NM_001385362.1:c.385A>G
NM_001385379.1:c.385A>G
NM_001385380.1:c.385A>G
NM_001385381.1:c.385A>G
NM_001385382.1:c.385A>G
NM_001385383.1:c.385A>G
NM_001385450.1:c.385A>G
NM_001385452.1:c.196A>G
NM_001385454.1:c.385A>G
NM_001385455.1:c.385A>G
NM_001385457.1:c.385A>G
NM_001385458.1:c.385A>G
NM_001385459.1:c.385A>G
NM_001385460.1:c.553A>G
NM_001385461.1:c.385A>G
NM_003866.3:c.940A>G
NP_001095139.1:p.Ile314Val
NP_001317969.1:p.Ile314Val
NP_001372263.1:p.Ile314Val
NP_001372264.1:p.Ile314Val
NP_001372265.1:p.Ile314Val
NP_001372266.1:p.Ile314Val
NP_001372267.1:p.Ile314Val
NP_001372268.1:p.Ile314Val
NP_001372269.1:p.Ile314Val
NP_001372270.1:p.Ile314Val
NP_001372271.1:p.Ile314Val
NP_001372272.1:p.Ile314Val
NP_001372273.1:p.Ile314Val
NP_001372276.1:p.Ile314Val
NP_001372277.1:p.Ile314Val
NP_001372279.1:p.Ile129Val
NP_001372280.1:p.Ile129Val
NP_001372286.1:p.Ile129Val
NP_001372291.1:p.Ile129Val
NP_001372308.1:p.Ile129Val
NP_001372309.1:p.Ile129Val
NP_001372310.1:p.Ile129Val
NP_001372311.1:p.Ile129Val
NP_001372312.1:p.Ile129Val
NP_001372379.1:p.Ile129Val
NP_001372381.1:p.Ile66Val
NP_001372383.1:p.Ile129Val
NP_001372384.1:p.Ile129Val
NP_001372386.1:p.Ile129Val
NP_001372387.1:p.Ile129Val
NP_001372388.1:p.Ile129Val
NP_001372389.1:p.Ile185Val
NP_001372390.1:p.Ile129Val
NP_003857.2:p.Ile314Val
NC_000004.11:g.143130076T>C
NM_003866.2:c.940A>G
NR_169599.1:n.1049A>G
NR_169614.1:n.926A>G
NR_169615.1:n.1326A>G
NR_169616.1:n.926A>G
NR_169617.1:n.1246A>G
NR_169618.1:n.926A>G
NR_169619.1:n.926A>G
NR_169623.1:n.926A>G
NR_169624.1:n.838A>G

Protein change:

I129V

Molecular consequence:

NM_001101669.3:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001331040.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385334.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385335.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385336.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385337.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385338.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385339.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385340.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385341.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385342.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385343.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385344.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385347.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385348.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385350.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385351.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385357.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385362.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385379.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385380.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385381.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385382.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385383.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385450.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385452.1:c.196A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385454.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385455.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385457.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385458.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385459.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385460.1:c.553A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385461.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003866.3:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_169599.1:n.1049A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169614.1:n.926A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169615.1:n.1326A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169616.1:n.926A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169617.1:n.1246A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169618.1:n.926A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169619.1:n.926A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169623.1:n.926A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169624.1:n.838A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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transcription factor JunD isoform deltaJunD [Mus musculus]
transcription factor JunD isoform deltaJunD [Mus musculus]
gi|558611366|ref|NP_001273873.1|

Protein
MULTISPECIES: DUF4124 domain-containing protein [Marinobacter]
MULTISPECIES: DUF4124 domain-containing protein [Marinobacter]
gi|1032600532|ref|WP_064230313.1|

Protein
MULTISPECIES: hypothetical protein [Marinobacter]
MULTISPECIES: hypothetical protein [Marinobacter]
gi|2124980286|ref|WP_227175554.1|

Protein
ribonuclease E [Marinobacter sp. CA1]
ribonuclease E [Marinobacter sp. CA1]
gi|2124980311|ref|WP_227175569.1|

Protein
Grallaria hypoleuca isolate Grhy cytochrome b-like gene, partial sequence; mitoc...
Grallaria hypoleuca isolate Grhy cytochrome b-like gene, partial sequence; mitochondrial
gi|7715720|gb|AF127198.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003702940	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 26, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003702940

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 26, 2021)

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, SCV003702940.2

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

Description

The c.940A>G (p.I314V) alteration is located in exon 14 (coding exon 10) of the INPP4B gene. This alteration results from a A to G substitution at nucleotide position 940, causing the isoleucine (I) at amino acid position 314 to be replaced by a valine (V). 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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