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NM_001190737.2(NFIB):c.230T>G (p.Leu77Arg) AND Macrocephaly, acquired, with impaired intellectual development

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 16, 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:
RCV003315141.2

Allele description [Variation Report for NM_001190737.2(NFIB):c.230T>G (p.Leu77Arg)]

NM_001190737.2(NFIB):c.230T>G (p.Leu77Arg)

Gene:
NFIB:nuclear factor I B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p22.3
Genomic location:
Preferred name:
NM_001190737.2(NFIB):c.230T>G (p.Leu77Arg)
HGVS:
  • NC_000009.12:g.14307321A>C
  • NM_001190737.2:c.230T>GMANE SELECT
  • NM_001190738.2:c.308T>G
  • NM_001369458.1:c.296T>G
  • NM_001369459.1:c.296T>G
  • NM_001369460.1:c.218T>G
  • NM_001369461.1:c.230T>G
  • NM_001369462.1:c.296T>G
  • NM_001369463.1:c.218T>G
  • NM_001369464.1:c.230T>G
  • NM_001369465.1:c.203T>G
  • NM_001369466.1:c.218T>G
  • NM_001369467.1:c.203T>G
  • NM_001369468.1:c.296T>G
  • NM_001369469.1:c.86T>G
  • NM_001369470.1:c.218T>G
  • NM_001369471.1:c.230T>G
  • NM_001369472.1:c.218T>G
  • NM_001369473.1:c.218T>G
  • NM_001369474.1:c.215T>G
  • NM_001369475.1:c.230T>G
  • NM_001369476.1:c.203T>G
  • NM_001369477.1:c.230T>G
  • NM_001369478.1:c.218T>G
  • NM_001369481.1:c.230T>G
  • NM_005596.3:c.230T>G
  • NP_001177666.1:p.Leu77Arg
  • NP_001177667.1:p.Leu103Arg
  • NP_001356387.1:p.Leu99Arg
  • NP_001356388.1:p.Leu99Arg
  • NP_001356389.1:p.Leu73Arg
  • NP_001356390.1:p.Leu77Arg
  • NP_001356391.1:p.Leu99Arg
  • NP_001356392.1:p.Leu73Arg
  • NP_001356393.1:p.Leu77Arg
  • NP_001356394.1:p.Leu68Arg
  • NP_001356395.1:p.Leu73Arg
  • NP_001356396.1:p.Leu68Arg
  • NP_001356397.1:p.Leu99Arg
  • NP_001356398.1:p.Leu29Arg
  • NP_001356399.1:p.Leu73Arg
  • NP_001356400.1:p.Leu77Arg
  • NP_001356401.1:p.Leu73Arg
  • NP_001356402.1:p.Leu73Arg
  • NP_001356403.1:p.Leu72Arg
  • NP_001356404.1:p.Leu77Arg
  • NP_001356405.1:p.Leu68Arg
  • NP_001356406.1:p.Leu77Arg
  • NP_001356407.1:p.Leu73Arg
  • NP_001356410.1:p.Leu77Arg
  • NP_005587.2:p.Leu77Arg
  • NC_000009.11:g.14307320A>C
Protein change:
L103R
Molecular consequence:
  • NM_001190737.2:c.230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190738.2:c.308T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369458.1:c.296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369459.1:c.296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369460.1:c.218T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369461.1:c.230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369462.1:c.296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369463.1:c.218T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369464.1:c.230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369465.1:c.203T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369466.1:c.218T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369467.1:c.203T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369468.1:c.296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369469.1:c.86T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369470.1:c.218T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369471.1:c.230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369472.1:c.218T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369473.1:c.218T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369474.1:c.215T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369475.1:c.230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369476.1:c.203T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369477.1:c.230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369478.1:c.218T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369481.1:c.230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005596.3:c.230T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Macrocephaly, acquired, with impaired intellectual development
Synonyms:
MACROCEPHALY, ACQUIRED, WITH MENTAL RETARDATION
Identifiers:
MONDO: MONDO:0032658; MedGen: C4748993; OMIM: 618286

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004014762Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACGS Guidelines, 2020)		Uncertain significance
(Feb 16, 2023) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV004014762.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 4, 2024