1-112911949-A-G

Variant summary

Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1

The NM_003051.4(SLC16A1):​c.*1942T>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.301 in 152,150 control chromosomes in the GnomAD database, including 8,795 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: 𝑓 0.30 ( 8794 hom., cov: 32)
Exomes 𝑓: 0.38 ( 1 hom. )

Consequence

SLC16A1
NM_003051.4 3_prime_UTR

Scores

2

Clinical Significance

Benign criteria provided, multiple submitters, no conflicts B:2

Conservation

PhyloP100: -0.0910
Variant links:
Genes affected
SLC16A1 (HGNC:10922): (solute carrier family 16 member 1) The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -20 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.89).
BP6
Variant 1-112911949-A-G is Benign according to our data. Variant chr1-112911949-A-G is described in ClinVar as [Benign]. Clinvar id is 291827.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.538 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
SLC16A1NM_003051.4 linkc.*1942T>C 3_prime_UTR_variant Exon 5 of 5 ENST00000369626.8 NP_003042.3 P53985-1A0A024R0H1
SLC16A1NM_001166496.2 linkc.*1942T>C 3_prime_UTR_variant Exon 5 of 5 NP_001159968.1 P53985-1A0A024R0H1B4DKS0
SLC16A1XM_047428789.1 linkc.*1942T>C 3_prime_UTR_variant Exon 5 of 5 XP_047284745.1
LOC124904342XR_007066442.1 linkn.2315A>G non_coding_transcript_exon_variant Exon 2 of 2

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
SLC16A1ENST00000369626 linkc.*1942T>C 3_prime_UTR_variant Exon 5 of 5 1 NM_003051.4 ENSP00000358640.4 P53985-1

Frequencies

GnomAD3 genomes
AF:
0.300
AC:
45655
AN:
152024
Hom.:
8765
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.544
Gnomad AMI
AF:
0.0802
Gnomad AMR
AF:
0.172
Gnomad ASJ
AF:
0.143
Gnomad EAS
AF:
0.0127
Gnomad SAS
AF:
0.0940
Gnomad FIN
AF:
0.290
Gnomad MID
AF:
0.220
Gnomad NFE
AF:
0.232
Gnomad OTH
AF:
0.273
GnomAD4 exome
AF:
0.375
AC:
3
AN:
8
Hom.:
1
Cov.:
0
AF XY:
0.500
AC XY:
3
AN XY:
6
show subpopulations
Gnomad4 FIN exome
AF:
0.500
Gnomad4 NFE exome
AF:
0.333
GnomAD4 genome
AF:
0.301
AC:
45739
AN:
152142
Hom.:
8794
Cov.:
32
AF XY:
0.294
AC XY:
21900
AN XY:
74386
show subpopulations
Gnomad4 AFR
AF:
0.544
Gnomad4 AMR
AF:
0.171
Gnomad4 ASJ
AF:
0.143
Gnomad4 EAS
AF:
0.0127
Gnomad4 SAS
AF:
0.0938
Gnomad4 FIN
AF:
0.290
Gnomad4 NFE
AF:
0.232
Gnomad4 OTH
AF:
0.269
Alfa
AF:
0.234
Hom.:
7987
Bravo
AF:
0.302
Asia WGS
AF:
0.0920
AC:
321
AN:
3478

ClinVar

Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link

Submissions by phenotype

not provided Benign:1
-
Breakthrough Genomics, Breakthrough Genomics
Significance: Benign
Review Status: criteria provided, single submitter
Collection Method: not provided

- -

Exercise-induced hyperinsulinism Benign:1
Jan 12, 2018
Illumina Laboratory Services, Illumina
Significance: Benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.89
CADD
Benign
0.98
DANN
Benign
0.75

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

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: rs9429505; hg19: chr1-113454571; API