VCV001710235.2 - ClinVar

NM_001190737.2(NFIB):c.1073del (p.Arg358fs)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_001190737.2(NFIB):c.1073del (p.Arg358fs)

Variation ID: 1710235 Accession: VCV001710235.2

Type and length

Deletion, 1 bp

Location

Cytogenetic: 9p23 9: 14120612 (GRCh38) [ NCBI UCSC ] 9: 14120611 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Oct 15, 2022	Oct 15, 2022	Apr 5, 2022

HGVS

Nucleotide	Protein	Molecular consequence
NM_001190737.2:c.1073del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_001177666.1:p.Arg358fs	frameshift
NM_001190738.2:c.1151del	NP_001177667.1:p.Arg384fs	frameshift
NM_001282787.2:c.317del	NP_001269716.1:p.Arg106fs	frameshift
NM_001369458.1:c.1139del	NP_001356387.1:p.Arg380fs	frameshift
NM_001369459.1:c.1139del	NP_001356388.1:p.Arg380fs	frameshift
NM_001369460.1:c.1061del	NP_001356389.1:p.Arg354fs	frameshift
NM_001369461.1:c.1073del	NP_001356390.1:p.Arg358fs	frameshift
NM_001369462.1:c.1139del	NP_001356391.1:p.Arg380fs	frameshift
NM_001369463.1:c.1061del	NP_001356392.1:p.Arg354fs	frameshift
NM_001369464.1:c.1073del	NP_001356393.1:p.Arg358fs	frameshift
NM_001369465.1:c.1046del	NP_001356394.1:p.Arg349fs	frameshift
NM_001369466.1:c.1061del	NP_001356395.1:p.Arg354fs	frameshift
NM_001369467.1:c.1046del	NP_001356396.1:p.Arg349fs	frameshift
NM_001369468.1:c.1139del	NP_001356397.1:p.Arg380fs	frameshift
NM_001369469.1:c.929del	NP_001356398.1:p.Arg310fs	frameshift
NM_001369470.1:c.836del	NP_001356399.1:p.Arg279fs	frameshift
NM_001369471.1:c.1070del	NP_001356400.1:p.Arg357fs	frameshift
NM_001369472.1:c.1061del	NP_001356401.1:p.Arg354fs	frameshift
NM_001369473.1:c.1058del	NP_001356402.1:p.Arg353fs	frameshift
NM_001369474.1:c.1055del	NP_001356403.1:p.Arg352fs	frameshift
NM_001369475.1:c.848del	NP_001356404.1:p.Arg283fs	frameshift
NM_001369476.1:c.1046del	NP_001356405.1:p.Arg349fs	frameshift
NM_001369477.1:c.1016del	NP_001356406.1:p.Arg339fs	frameshift
NM_001369478.1:c.836del	NP_001356407.1:p.Arg279fs	frameshift
NM_001369479.1:c.536del	NP_001356408.1:p.Arg179fs	frameshift
NM_001369480.1:c.536del	NP_001356409.1:p.Arg179fs	frameshift
NM_005596.3:c.1073del	NP_005587.2:p.Arg358fs	frameshift
NR_161382.1:n.607del		non-coding transcript variant
NR_161383.1:n.955del		non-coding transcript variant
NR_161384.1:n.605del		non-coding transcript variant
NR_161385.1:n.657del		non-coding transcript variant
NC_000009.12:g.14120612del
NC_000009.11:g.14120611del

... more HGVS ... less HGVS

Protein change

R106fs, R179fs, R279fs, R283fs, R310fs, R339fs, R349fs, R352fs, R353fs, R354fs, R357fs, R358fs, R380fs, R384fs

Other names

Canonical SPDI

NC_000009.12:14120611:C:

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
NFIB		-	-	GRCh38 GRCh37	132	259

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Macrocephaly, acquired, with impaired intellectual development	Pathogenic (1)	no assertion criteria provided	Apr 5, 2022	RCV002291162.2

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Apr 05, 2022)	no assertion criteria provided Method: clinical testing	Macrocephaly, acquired, with impaired intellectual development Affected status: yes Allele origin: germline	Clinical Genetics Laboratory, University Hospital Schleswig-Holstein Accession: SCV002583431.1 First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for this variant ...

Record last updated Nov 05, 2022

ClinVar Genomic variation as it relates to human health

NM_001190737.2(NFIB):c.1073del (p.Arg358fs)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...