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GeneBe

1-200891603-G-C

Variant summary

Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2

The ENST00000367342.8(INAVA):c.105G>C(p.Arg35=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00675 in 1,562,952 control chromosomes in the GnomAD database, including 51 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. R35R) has been classified as Benign.

Frequency

Genomes: 𝑓 0.0043 ( 0 hom., cov: 33)
Exomes 𝑓: 0.0070 ( 51 hom. )

Consequence

INAVA
ENST00000367342.8 synonymous

Scores

2

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: 0.588
Variant links:
Genes affected
INAVA (HGNC:25599): (innate immunity activator) Involved in several processes, including nucleotide-binding activity oligomerization domain containing 2 signaling pathway; positive regulation of cytokine production; and positive regulation of intracellular signal transduction. Located in cytoplasm and nucleus. Implicated in inflammatory bowel disease 29. [provided by Alliance of Genome Resources, Apr 2022]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -11 ACMG points.

BP4
?
    BP4 - Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.)
Computational evidence support a benign effect (BayesDel_noAF=-0.65).
BP6
?
    BP6 - Reputable source recently reports variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation
Variant 1-200891603-G-C is Benign according to our data. Variant chr1-200891603-G-C is described in ClinVar as [Benign]. Clinvar id is 779223.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
?
    BP7 - A synonymous (silent) variant for which splicing prediction algorithms predict no impact to the splice consensus sequence nor the creation of a new splice site AND the nucleotide is not highly conserved
Synonymous conserved (PhyloP=0.588 with no splicing effect.
BS2
?
    BS2 - Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age
High Homozygotes in GnomAdExome at 3 AR gene

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
INAVANM_018265.4 linkuse as main transcriptc.63G>C p.Arg21= synonymous_variant 1/10

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
INAVAENST00000367342.8 linkuse as main transcriptc.105G>C p.Arg35= synonymous_variant 1/101 A2
INAVAENST00000451872.6 linkuse as main transcriptc.-10+201G>C intron_variant 3
INAVAENST00000532631.5 linkuse as main transcriptc.-95+201G>C intron_variant 3

Frequencies

GnomAD3 genomes
?
    Genome Aggregation Database, over 76,156 genomes
AF:
0.00431
AC:
656
AN:
152226
Hom.:
0
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.00135
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.000392
Gnomad ASJ
AF:
0.000576
Gnomad EAS
AF:
0.000193
Gnomad SAS
AF:
0.000620
Gnomad FIN
AF:
0.00339
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.00801
Gnomad OTH
AF:
0.00335
GnomAD3 exomes
AF:
0.00499
AC:
944
AN:
189228
Hom.:
3
AF XY:
0.00483
AC XY:
494
AN XY:
102194
show subpopulations
Gnomad AFR exome
AF:
0.00114
Gnomad AMR exome
AF:
0.000479
Gnomad ASJ exome
AF:
0.000176
Gnomad EAS exome
AF:
0.0000758
Gnomad SAS exome
AF:
0.000550
Gnomad FIN exome
AF:
0.00448
Gnomad NFE exome
AF:
0.00926
Gnomad OTH exome
AF:
0.00522
GnomAD4 exome
AF:
0.00702
AC:
9896
AN:
1410608
Hom.:
51
Cov.:
31
AF XY:
0.00671
AC XY:
4693
AN XY:
699296
show subpopulations
Gnomad4 AFR exome
AF:
0.000862
Gnomad4 AMR exome
AF:
0.000544
Gnomad4 ASJ exome
AF:
0.000440
Gnomad4 EAS exome
AF:
0.0000554
Gnomad4 SAS exome
AF:
0.000355
Gnomad4 FIN exome
AF:
0.00549
Gnomad4 NFE exome
AF:
0.00852
Gnomad4 OTH exome
AF:
0.00425
GnomAD4 genome
?
    Genome Aggregation Database, over 76,156 genomes
AF:
0.00431
AC:
656
AN:
152344
Hom.:
0
Cov.:
33
AF XY:
0.00392
AC XY:
292
AN XY:
74500
show subpopulations
Gnomad4 AFR
AF:
0.00135
Gnomad4 AMR
AF:
0.000392
Gnomad4 ASJ
AF:
0.000576
Gnomad4 EAS
AF:
0.000193
Gnomad4 SAS
AF:
0.000621
Gnomad4 FIN
AF:
0.00339
Gnomad4 NFE
AF:
0.00801
Gnomad4 OTH
AF:
0.00331
Alfa
AF:
0.00162
Hom.:
0
Bravo
AF:
0.00402

ClinVar

Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

not provided Benign:1
Benign, criteria provided, single submitterclinical testingInvitaeMar 29, 2018- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.65
Cadd
Benign
10
Dann
Benign
0.85

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs141245080; hg19: chr1-200860731; API