NM_001190737.2(NFIB):c.1057_1059del (p.Ser353del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 13, 2023
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:: RCV003321121.1

Allele description [Variation Report for NM_001190737.2(NFIB):c.1057_1059del (p.Ser353del)]

NM_001190737.2(NFIB):c.1057_1059del (p.Ser353del)

Gene:

NFIB:nuclear factor I B [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9p23

Genomic location:

Preferred name:

NM_001190737.2(NFIB):c.1057_1059del (p.Ser353del)

HGVS:

NC_000009.12:g.14125633_14125635del
NM_001190737.2:c.1057_1059delMANE SELECT
NM_001190738.2:c.1135_1137del
NM_001282787.2:c.301_303del
NM_001369458.1:c.1123_1125del
NM_001369459.1:c.1123_1125del
NM_001369460.1:c.1045_1047del
NM_001369461.1:c.1057_1059del
NM_001369462.1:c.1123_1125del
NM_001369463.1:c.1045_1047del
NM_001369464.1:c.1057_1059del
NM_001369465.1:c.1030_1032del
NM_001369466.1:c.1045_1047del
NM_001369467.1:c.1030_1032del
NM_001369468.1:c.1123_1125del
NM_001369469.1:c.913_915del
NM_001369470.1:c.820_822del
NM_001369471.1:c.1057_1057+2del
NM_001369472.1:c.1045_1047del
NM_001369473.1:c.1045_1045+2del
NM_001369474.1:c.1042_1042+2del
NM_001369475.1:c.832_834del
NM_001369476.1:c.1030_1032del
NM_001369477.1:c.1003_1003+2del
NM_001369478.1:c.820_822del
NM_001369479.1:c.520_522del
NM_001369480.1:c.520_522del
NM_005596.3:c.1057_1059del
NP_001177666.1:p.Ser353del
NP_001177667.1:p.Ser379del
NP_001269716.1:p.Ser101del
NP_001356387.1:p.Ser375del
NP_001356388.1:p.Ser375del
NP_001356389.1:p.Ser349del
NP_001356390.1:p.Ser353del
NP_001356391.1:p.Ser375del
NP_001356392.1:p.Ser349del
NP_001356393.1:p.Ser353del
NP_001356394.1:p.Ser344del
NP_001356395.1:p.Ser349del
NP_001356396.1:p.Ser344del
NP_001356397.1:p.Ser375del
NP_001356398.1:p.Ser305del
NP_001356399.1:p.Ser274del
NP_001356401.1:p.Ser349del
NP_001356404.1:p.Ser278del
NP_001356405.1:p.Ser344del
NP_001356407.1:p.Ser274del
NP_001356408.1:p.Ser174del
NP_001356409.1:p.Ser174del
NP_005587.2:p.Ser353del
NC_000009.11:g.14125632_14125634del
NM_001190737.1:c.1057_1059del
NR_161382.1:n.591_593del
NR_161384.1:n.589_591del
NR_161385.1:n.641_643del

Protein change:

S101del

Molecular consequence:

NM_001190737.2:c.1057_1059del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001190738.2:c.1135_1137del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001282787.2:c.301_303del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369458.1:c.1123_1125del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369459.1:c.1123_1125del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369460.1:c.1045_1047del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369461.1:c.1057_1059del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369462.1:c.1123_1125del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369463.1:c.1045_1047del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369464.1:c.1057_1059del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369465.1:c.1030_1032del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369466.1:c.1045_1047del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369467.1:c.1030_1032del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369468.1:c.1123_1125del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369469.1:c.913_915del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369470.1:c.820_822del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369472.1:c.1045_1047del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369475.1:c.832_834del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369476.1:c.1030_1032del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369478.1:c.820_822del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369479.1:c.520_522del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369480.1:c.520_522del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_005596.3:c.1057_1059del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_161382.1:n.591_593del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_161384.1:n.589_591del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_161385.1:n.641_643del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001369471.1:c.1057_1057+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001369473.1:c.1045_1045+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001369474.1:c.1042_1042+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001369477.1:c.1003_1003+2del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004025280	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 13, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004025280

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 13, 2023)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV004025280.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of one amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 19, 2023

ClinVar

Relating variation to medicine